Wiskott-Aldrich Syndrome Protein
Wiskott-Aldrich Syndrome
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Wiskott-Aldrich Syndrome Protein, Neuronal
Wiskott-Aldrich Syndrome Protein Family
A family of microfilament proteins whose name derives from the fact that mutations in members of this protein family have been associated with WISKOTT-ALDRICH SYNDROME. They are involved in ACTIN polymerization and contain a polyproline-rich region that binds to PROFILIN, and a verprolin homology domain that binds G-ACTIN.
Allergy and Immunology
Actin-Related Protein 2
Monocyte-mediated antibody-dependent cellular cytotoxicity: a clinical test of monocyte function. (1/278)
The lack of a simple, rapid, and quantitative test of the functional activity of the monocyte has hampered studies of the contribution of this cell type to host defense and human disease. This report describes an assay of antibody-dependent cellular cytotoxicity, which depends exclusively upon the monocyte as the effector cell and therefore provides a convenient test of monocyte function. In this system, mononuclear leukocytes (MNL) obtained by Ficoll-Hypaque separation of whole blood are cytotoxic for 51Cr-labeled human erythrocyte targets coated with anti-blood group antibody. Removal of phagocytic monocytes from the MNL by iron ingestion, followed by exposure to a magnetic field, completely abolishes all cytotoxic activity from the remaining MNL population. Similarly, in severely mono-cytopenic patients with aplastic anemia, cytotoxic effector activity is absent. In normals and less severely monocytopenic aplastic anemia patients, cytotoxicity correlates significantly (p less than 0.001) with monocyte number. Application of this monocyte-mediated antibody-dependent cellular cytotoxicity assay to the study of patients with the Wiskott-Aldrich syndrome has revealed defective monocyte cytotoxic activity in spite of normal monocyte numbers, suggesting that this test may be useful for the assessment of monocyte function in a variety of clinical situations. (+info)Actin polymerization: Where the WASP stings. (2/278)
How do extracellular signals induce actin polymerization, as required for many cellular responses? Key signal transducers, such as the small GTPases Cdc42 and Rac, have now been shown to link via proteins of the WASP family to the Arp2/3 complex, which nucleates actin polymerization. (+info)Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. (3/278)
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, eczema, immune deficiency, and a proclivity toward lymphoid malignancy. Lymphocytes of affected individuals show defects of activation, motility, and cytoskeletal structure. The disease gene encodes a 502-amino acid protein named the WAS protein (WASP). Studies have identified a number of important interactions that place WASP in a role of integrating signaling pathways with cytoskeletal function. We performed a two-hybrid screen to identify proteins interacting with WASP and cloned a proline-rich protein as a specific WASP interactor. Our clone of this protein, termed WASP interacting protein (WIP) by others, shows a difference in seven amino acid residues, compared with the previously published sequence revealing an additional profilin binding motif. Deletion mutant analysis reveals that WASP residues 101-151 are necessary for WASP-WIP interaction. Point mutant analyses in the two-hybrid system and in vitro show impairment of WASP-WIP interaction with three WASP missense mutants known to cause WAS. We conclude that impaired WASP-WIP interaction may contribute to WAS. (+info)The Wiskott-Aldrich syndrome protein directs actin-based motility by stimulating actin nucleation with the Arp2/3 complex. (4/278)
Actin polymerization at the cell cortex is thought to provide the driving force for aspects of cell-shape change and locomotion. To coordinate cellular movements, the initiation of actin polymerization is tightly regulated, both spatially and temporally. The Wiskott-Aldrich syndrome protein (WASP), encoded by the gene that is mutated in the immunodeficiency disorder Wiskott-Aldrich syndrome [1], has been implicated in the control of actin polymerization in cells [2] [3] [4] [5]. The Arp2/3 complex, an actin-nucleating factor that consists of seven polypeptide subunits [6] [7] [8], was recently shown to physically interact with WASP [9]. We sought to determine whether WASP is a cellular activator of the Arp2/3 complex and found that WASP stimulates the actin nucleation activity of the Arp2/3 complex in vitro. Moreover, WASP-coated microspheres polymerized actin, formed actin tails and exhibited actin-based motility in cell extracts, similar to those behaviors displayed by the pathogenic bacterium Listeria monocytogenes. In extracts depleted of the Arp2/3 complex, WASP-coated microspheres and L. monocytogenes were non-motile and exhibited only residual actin polymerization. These results demonstrate that WASP is sufficient to direct actin-based motility in cell extracts and that this function is mediated by the Arp2/3 complex. WASP interacts with diverse signaling proteins and may therefore function to couple signal transduction pathways to Arp2/3-complex activation and actin polymerization. (+info)The human WASP-interacting protein, WIP, activates the cell polarity pathway in yeast. (5/278)
WIP, the Wiskott-Aldrich syndrome protein-interacting protein, is a human protein involved in actin polymerization and redistribution in lymphoid cells. The mechanism by which WIP reorganizes actin cytoskeleton is unknown. WIP is similar to yeast verprolin, an actin- and myosin-interacting protein required for polarized morphogenesis. To determine whether WIP and verprolin are functional homologues, we analyzed the function of WIP in yeast. WIP suppresses the growth defects of VRP1 missense and null mutations as well as the defects in cytoskeletal organization and endocytosis observed in vrp1-1 cells. The ability of WIP to replace verprolin is dependent on its WH2 actin binding domain and a putative profilin binding domain. Immunofluorescence localization of WIP in yeast cells reveals a pattern consistent with its function at the cortical sites of growth. Thus, like verprolin, WIP functions in yeast to link the polarity development pathway and the actin cytoskeleton to generate cytoskeletal asymmetry. A role for WIP in cell polarity provides a framework for unifying, under a common paradigm, distinct molecular defects associated with immunodeficiencies like Wiskott-Aldrich syndrome. (+info)The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation. (6/278)
The Wiskott-Aldrich syndrome (WAS) is an X-linked hereditary disease characterized by thrombocytopenia with small platelet size, eczema, and increased susceptibility to infections. The gene responsible for WAS was recently cloned. Although the precise function of WAS protein (WASP) is unknown, it appears to play a critical role in the regulation of cytoskeletal organization. The platelet defect, resulting in thombocytopenia and small platelet size, is a consistent finding in patients with mutations in the WASP gene. However, its exact mechanism is unknown. Regarding WASP function in cytoskeletal organization, we investigated whether these platelet abnormalities could be due to a defect in proplatelet formation or in megakaryocyte (MK) migration. CD34(+) cells were isolated from blood and/or marrow of 14 WAS patients and five patients with hereditary X-linked thrombocytopenia (XLT) and cultured in serum-free liquid medium containing recombinant human Mpl-L (PEG-rHuMGDF) and stem-cell factor (SCF) to study in vitro megakaryocytopoiesis. In all cases, under an inverted microscope, normal MK differentiation and proplatelet formation were observed. At the ultrastructural level, there was also no abnormality in MK maturation, and normal filamentous MK were present. Moreover, the in vitro produced platelets had a normal size, while peripheral blood platelets of the same patients exhibited an abnormally small size. However, despite this normal platelet production, we observed that F-actin distribution was abnormal in MKs from WAS patients. Indeed, F-actin was regularly and linearly distributed under the cytoplasmic membrane in normal MKs, but it was found concentrated in the center of the WAS MKs. After adhesion, normal MKs extended very long filopodia in which WASP could be detected. In contrast, MKs from WAS patients showed shorter and less numerous filopodia. However, despite this abnormal filopodia formation, MKs from WAS patients normally migrated in response to stroma-derived factor-1alpha (SDF-1alpha), and actin normally polymerized after SDF-1alpha or thrombin stimulation. These results suggest that the platelet defect in WAS patients is not due to abnormal platelet production, but instead to cytoskeletal changes occuring in platelets during circulation. (+info)Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages. (7/278)
Wiskott-Aldrich syndrome protein (WASp) is a hematopoietic-specific, multidomain protein whose mutation is responsible for the immunodeficiency disorder Wiskott-Aldrich syndrome. WASp contains a binding motif for the Rho GTPase CDC42Hs as well as verprolin/cofilin-like actin-regulatory domains, but no specific actin structure regulated by CDC42Hs-WASp has been identified. We found that WASp colocalizes with CDC42Hs and actin in the core of podosomes, a highly dynamic adhesion structure of human blood-derived macrophages. Microinjection of constitutively active V12CDC42Hs or a constitutively active WASp fragment consisting of the verprolin/cofilin-like domains led to the disassemly of podosomes. Conversely, macrophages from patients expressing truncated forms of WASp completely lacked podosomes. These findings indicate that WASp controls podosome assembly and, in cooperation with CDC42Hs, podosome disassembly in primary human macrophages. (+info)Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations. (8/278)
Boys affected with Wiskott-Aldrich syndrome (WAS) present with variable association of thrombocytopenia, eczema and immune deficiency. If untreated, WAS patients may succumb to intracerebral hemorrhages, severe infections or malignancies. Allogeneic bone marrow transplantation (BMT) can cure all aspects of the disease, but HLA-identical donors are not available to all patients and mismatched BMTs are unfortunately associated with high mortality and morbidity. The good success of HLA-matched BMT, however, makes WAS a potential candidate for hematopoietic stem cell gene therapy. WAS patients carry mutations of the Wiskott-Aldrich syndrome protein gene encoding WASP, a 502-amino acid proline-rich protein with demonstrated involvement in the organization of the actin cytoskeleton. To verify the feasibility of genetic correction for this disease, the WASP cDNA was expressed in EBV-immortalized B cell lines obtained from WAS patients using a retroviral vector. Transduced WAS cells showed levels of WASP expression similar to those found in cells from normal donors, without detectable effects on viability or growth characteristics. In addition, retrovirus-mediated expression of WASP led to improvement of cytoplasmic F-actin expression and formation of F-actin-positive microvilli, a process shown to be defective in untransduced WAS cell lines. These preliminary results indicate a potential use for retrovirus-mediated gene transfer as therapy for WAS. (+info)Wiskott-Aldrich Syndrome Protein (WASP) is an intracellular signaling protein, primarily expressed in hematopoietic cells, which plays a critical role in actin cytoskeleton reorganization, immune synapse formation, and regulation of various immune responses, whose deficiency leads to the X-linked recessive disorder called Wiskott-Aldrich Syndrome (WAS), characterized by microthrombocytopenia, eczema, recurrent infections, and increased susceptibility to autoimmunity and lymphoid malignancies.
Wiskott-Aldrich Syndrome Protein (WASP) is a intracellular protein that plays a critical role in the regulation of actin cytoskeleton reorganization. It is encoded by the WAS gene, which is located on the X chromosome. WASP is primarily expressed in hematopoietic cells, including platelets, T cells, B cells, and natural killer cells.
WASP functions as a downstream effector of several signaling pathways that regulate actin dynamics, including the CDC42-MRCK pathway. When activated, WASP interacts with actin-related proteins (ARPs) and profilin to promote the nucleation and polymerization of actin filaments. This leads to changes in cell shape, motility, and cytoskeletal organization that are essential for various immune functions, such as T cell activation, antigen presentation, phagocytosis, and platelet aggregation.
Mutations in the WAS gene can lead to Wiskott-Aldrich syndrome (WAS), a rare X-linked recessive disorder characterized by microthrombocytopenia, eczema, recurrent infections, and increased risk of autoimmunity and lymphoma. The severity of the disease varies depending on the specific mutation and its impact on WASP function.
Wiskott-Aldrich Syndrome is a rare X-linked recessive primary immunodeficiency disorder characterized by microthrombocytopenia, eczema, and recurrent infections, often presenting in infancy or early childhood.
Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder characterized by the triad of microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein (WASp), a key regulator of actin cytoskeleton reorganization in hematopoietic cells.
The clinical features of WAS include:
1. Microthrombocytopenia: This is characterized by small platelet size and low platelet count, leading to an increased risk of bleeding.
2. Eczema: This is a chronic inflammatory skin disorder that can cause itching, redness, and scaly patches on the skin.
3. Recurrent infections: Patients with WAS are susceptible to bacterial, viral, and fungal infections due to impaired immune function.
Other clinical manifestations of WAS may include autoimmune disorders, lymphoma, and inflammatory bowel disease. The severity of the disease can vary widely among patients, ranging from mild to severe. Treatment options for WAS include hematopoietic stem cell transplantation (HSCT), gene therapy, and supportive care measures such as antibiotics, immunoglobulin replacement therapy, and platelet transfusions.
A syndrome is a set of symptoms that collectively indicate a specific disease, disorder, or condition, often representing a common pathway or pattern of underlying physiological processes and/or anatomical abnormalities.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Wiskott-Aldrich Syndrome Protein, Neuronal (N-WASP) is a protein involved in the regulation of actin cytoskeleton dynamics, particularly in neurons, and its dysfunction has been implicated in various neurological disorders.
Wiskott-Aldrich Syndrome Protein (WASP), Neuronal is not a well-defined medical term or concept. WASP is a protein that plays a crucial role in the regulation of actin cytoskeleton dynamics, primarily in hematopoietic cells. However, there are several WASP family proteins, including Neural Wiskott-Aldrich Syndrome Protein (N-WASP), which is widely expressed and has been implicated in the regulation of actin cytoskeleton dynamics in neurons.
Neuronal N-WASP (N-WASP, Neuronal) is a protein that belongs to the Wiskott-Aldrich Syndrome Protein family and is primarily expressed in neurons. It plays an essential role in regulating actin cytoskeleton dynamics during synaptic plasticity, which is critical for learning and memory processes. N-WASP interacts with various proteins to control the formation of filamentous actin (F-actin) structures required for neuronal morphogenesis, including dendritic spine development and maintenance.
In summary, Wiskott-Aldrich Syndrome Protein (WASP), Neuronal is not a well-defined term, but Neuronal N-WASP refers to the protein that belongs to the WASP family and is primarily expressed in neurons, playing an essential role in regulating actin cytoskeleton dynamics during synaptic plasticity.
Wiskott-Aldrich Syndrome Protein (WASP) family refers to a group of proteins including WASP, N-WASP, and WAVE, which play crucial roles in actin cytoskeleton regulation, immune cell function, and intracellular signaling transduction.
The Wiskott-Aldrich Syndrome Protein (WASP) family is a group of proteins that play crucial roles in actin cytoskeleton regulation, which is essential for various cellular processes such as cell motility, membrane trafficking, and immune synapse formation. The family includes WASP, N-WASP (Neural WASP), WAVE1 (WASP-family verprolin homologous protein 1), WAVE2, WAVE3, and WHAMM (WASP Homology Associated with Actin, Membranes and Microtubules). These proteins share a common structural feature called the WASP homology domain 2 (WH2) that binds to actin monomers, and a C-terminal verprolin homology domain (VHD) that interacts with various regulatory factors. Mutations in the gene encoding WASP can lead to Wiskott-Aldrich syndrome, an X-linked recessive disorder characterized by microthrombocytopenia, eczema, and recurrent infections.
Allergy and Immunology is a medical specialty that deals with the diagnosis and treatment of disorders related to immune system dysfunctions, including allergies, asthma, autoimmune diseases, and immunodeficiency conditions.
Allergy and Immunology is a medical specialty that deals with the diagnosis and treatment of allergic diseases and immune system disorders. An Allergist/Immunologist is a physician who has undergone specialized training in this field.
Allergies occur when the immune system overreacts to normally harmless substances, such as pollen, dust mites, or certain foods, resulting in symptoms like sneezing, itching, runny nose, and rashes. Immunology, on the other hand, deals with disorders of the immune system, which can be caused by either an overactive or underactive immune response. Examples of immune disorders include autoimmune diseases (where the body attacks its own tissues), immunodeficiency disorders (where the immune system is weakened and unable to fight off infections), and hypersensitivity reactions (overreactions of the immune system to harmless substances).
The Allergist/Immunologist uses various diagnostic tests, such as skin prick tests, blood tests, and challenge tests, to identify the specific allergens or immune triggers that are causing a patient's symptoms. Once the diagnosis is made, they can recommend appropriate treatments, which may include medications, immunotherapy (allergy shots), lifestyle changes, or avoidance of certain substances.
In addition to treating patients, Allergist/Immunologists also conduct research into the underlying causes and mechanisms of allergic diseases and immune disorders, with the goal of developing new and more effective treatments.
Actin-Related Protein 2 (ARP2) is a subunit of the Actin-Related Proteins 2/3 (ARP2/3) complex, which plays a crucial role in actin dynamics by nucleating and branching actin filaments, thereby regulating various cellular processes such as cytokinesis, cell motility, and vesicle trafficking.
Actin-related protein 2 (ARP2) is a subunit of the Arp2/3 complex, which is a key regulator of actin dynamics and plays a crucial role in the formation of branched actin networks. The Arp2/3 complex is composed of seven subunits, including ARP2 and ARP3, which are structurally similar to actin and can form a heterodimer that acts as a nucleation site for new actin filaments.
ARP2 and the other subunits of the Arp2/3 complex are highly conserved across species and are involved in various cellular processes, such as cell motility, cytokinesis, endocytosis, and maintenance of cell shape. Mutations in genes encoding ARP2 or other subunits of the Arp2/3 complex have been associated with various human diseases, including neurological disorders and immunodeficiencies.
Actin-Related Protein 3 (ARP3) is a subunit of the Actin-Related Proteins 2/3 (ARP2/3) complex, which plays a crucial role in actin nucleation and branching during cell motility, cytokinesis, and vesicle trafficking.
Actin-related protein 2/3 (Arp2/3) is a complex of seven proteins that plays a crucial role in the regulation of actin dynamics within cells. The Arp2/3 complex is involved in the nucleation and branching of actin filaments, which are important for various cellular processes such as cell motility, cytokinesis, and vesicle trafficking.
Actin-related protein 3 (Arp3) is one of the subunits that make up the Arp2/3 complex. It is a conserved protein found in eukaryotic cells and is essential for the formation of new actin filaments. The Arp3 subunit, along with the Arp2 subunit, forms the structural core of the complex and is responsible for initiating the formation of new actin filaments by binding to existing filaments and creating a branch point.
The Arp2/3 complex is regulated by various proteins, including nucleation-promoting factors (NPFs), which activate the complex and promote actin polymerization. Dysregulation of the Arp2/3 complex has been implicated in several diseases, including cancer and neurological disorders.
Wiskott-Aldrich syndrome
Pediatric Wiskott-Aldrich Syndrome Buchbinder, David; Nugent, Diane; Fillipovich, Alexandra (April 2014). "Wiskott-Aldrich ... "Wiskott-Aldrich Syndrome" Wiskott-Aldrich Foundation (Wikipedia articles needing page number citations from July 2015, Articles ... "Wiskott-Aldrich syndrome". Genetics Home Reference. Retrieved 2016-06-26. Aldrich RA, Steinberg AG, Campbell DC (February 1954 ... Outcomes from Wiskott-Aldrich syndrome are variable and depend on how severely an individual is affected (the WAS score may be ...
Wiskott-Aldrich syndrome protein
The Wiskott-Aldrich Syndrome protein (WASp) is a 502-amino acid protein expressed in cells of the hematopoietic system that in ... Wiskott-Aldrich syndrome protein has been shown to interact with: CDC42, CRKL, EGFR, FGR, FYN, Grb2, ITK ITSN2, NCK1, PIK3R1, ... WASp is a product of the WASp, and mutations in the WASp can lead to Wiskott-Aldrich syndrome (an X-linked disease that mainly ... The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of ...
X-linked thrombocytopenia
It is a WAS-related disorder, meaning it is caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene, which is located ... "WAS - Wiskott-Aldrich syndrome". Genetics Home Reference. 2014-12-16. Retrieved 2015-07-30. "Anemia". Mayo Clinic. 2014-08-19. ... WAS-related disorders include Wiskott-Aldrich syndrome, XLT, and X-linked congenital neutropenia (XLN). Of the WAS-related ... This mutation causes the decreased, absent, or altered Wiskott-Aldrich syndrome protein (WASp). Normal WASp is involved in ...
FYN
Banin S, Truong O, Katz DR, Waterfield MD, Brickell PM, Gout I (August 1996). "Wiskott-Aldrich syndrome protein (WASp) is a ... Banin S, Gout I, Brickell P (August 1999). "Interaction between Wiskott-Aldrich Syndrome protein (WASP) and the Fyn protein- ... O'Sullivan E, Kinnon C, Brickell P (1999). "Wiskott-Aldrich syndrome protein, WASP". Int. J. Biochem. Cell Biol. 31 (3-4): 383- ... Rivero-Lezcano OM, Marcilla A, Sameshima JH, Robbins KC (October 1995). "Wiskott-Aldrich syndrome protein physically associates ...
GRB2
She HY, Rockow S, Tang J, Nishimura R, Skolnik EY, Chen M, Margolis B, Li W (September 1997). "Wiskott-Aldrich syndrome protein ... Fukuoka M, Suetsugu S, Miki H, Fukami K, Endo T, Takenawa T (February 2001). "A novel neural Wiskott-Aldrich syndrome protein ( ... Banin S, Truong O, Katz DR, Waterfield MD, Brickell PM, Gout I (August 1996). "Wiskott-Aldrich syndrome protein (WASp) is a ... O'Sullivan E, Kinnon C, Brickell P (1999). "Wiskott-Aldrich syndrome protein, WASP". The International Journal of Biochemistry ...
OTL-103
... where they produce functional copies of Wiskott-Aldrich syndrome protein. This would mitigate the symptoms of Wiskott-Aldrich ... "OTL-103 for Wiskott-Aldrich syndrome , Innovation Observatory". www.io.nihr.ac.uk. Retrieved 2021-06-28. v t e (CS1 errors: ... In the same year, the first clinical trial using OTL-103 for severe cases of Wiskott-Aldrich syndrome began at the San Raffaele ... OTL-103 (GSK-2696275) is a gene therapy for Wiskott-Aldrich syndrome, a rare primary immunodeficiency caused by mutations in ...
WASF3
Wiskott-Aldrich syndrome protein family member 3 is a protein that in humans is encoded by the WASF3 gene. This gene encodes a ... Millard TH, Machesky LM (2001). "The Wiskott-Aldrich syndrome protein (WASP) family". Trends Biochem. Sci. 26 (3): 198-9. doi: ... member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that ...
WASF2
"Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP ... Wiskott-Aldrich syndrome protein family member 2 is a protein that in humans is encoded by the WASF2 gene. This gene encodes a ... 1997). "Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor ... Banin S, Gout I, Brickell P (1999). "Interaction between Wiskott-Aldrich Syndrome protein (WASP) and the Fyn protein-tyrosine ...
CD43
Defects in the CD43 molecule are associated with the development of Wiskott-Aldrich syndrome. It also appears in about 25% of ... 1991). "Enhancement of T-cell activation by the CD43 molecule whose expression is defective in Wiskott-Aldrich syndrome". ... Remold-O'Donnell E, Rosen FS (1990). "Sialophorin (CD43) and the Wiskott-Aldrich syndrome". Immunodefic Rev. 2 (2): 151-74. ... 1992). "CD43, a molecule defective in Wiskott-Aldrich syndrome, binds ICAM-1". Nature. 354 (6350): 233-5. Bibcode:1991Natur.354 ...
WASL (gene)
Neural Wiskott-Aldrich syndrome protein is a protein that in humans is encoded by the WASL gene. The Wiskott-Aldrich syndrome ( ... "Entrez Gene: WASL Wiskott-Aldrich syndrome-like". Suetsugu S, Tezuka T, Morimura T, Hattori M, Mikoshiba K, Yamamoto T, ... Fukuoka M, Suetsugu S, Miki H, Fukami K, Endo T, Takenawa T (Feb 2001). "A novel neural Wiskott-Aldrich syndrome protein (N- ... Mizutani K, Miki H, He H, Maruta H, Takenawa T (Feb 2002). "Essential role of neural Wiskott-Aldrich syndrome protein in ...
Marina Cavazzana
Wiskott-Aldrich syndrome is an immunodeficiency associated with microthrombocytopenia. The child with sickle cell disease had a ... Cavazzana went on to provide gene therapy to sickle cell disease in 2014 and the first patient with Wiskott-Aldrich syndrome. ...
Jordan S. Orange
During his tenure, he also worked at CHOP where he focused on Wiskott-Aldrich syndrome. Orange continued his research stemming ... "CHOP Researcher Collaborates on Study of Wiskott-Aldrich Syndrome". Children's Hospital of Philadelphia. November 15, 2010. ...
Congenital amegakaryocytic thrombocytopenia
The absence of microthrombocytopenia can rule out Wiskott-Aldrich syndrome. Two types of Congenital amegakaryocytic ... for Congenital amegakaryocytic thrombocytopenia includes thrombocytopenia-absent radius syndrome and Wiskott-Aldrich syndrome. ... Rates of pancytopenia are much lower in type I. Increased risk of myelodysplastic syndrome and acute myeloid leukemia has been ... Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure syndrome characterized by ...
Helge Stormorken
"First-trimester diagnosis of Wiskott-Aldrich syndrome by DNA markers". The Lancet. 334 (8676): 1405. doi:10.1016/S0140-6736(89) ... "Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different ... He described the multifaceted Stormorken syndrome, a mutations in f. VII, f. IX, Fibrinogen Oslo IV and V, all with clinical ... Stormorken, H; Sjaastad, O; Langslet, A; Sulg, I; Egge, K; Diderichsen, J (November 1985). "A new syndrome: thrombocytopathia, ...
CDC42
Symons M, Derry JM, Karlak B, Jiang S, Lemahieu V, Mccormick F, Francke U, Abo A (March 1996). "Wiskott-Aldrich syndrome ... Kolluri R, Tolias KF, Carpenter CL, Rosen FS, Kirchhausen T (May 1996). "Direct interaction of the Wiskott-Aldrich syndrome ... Tian L, Nelson DL, Stewart DM (March 2000). "Cdc42-interacting protein 4 mediates binding of the Wiskott-Aldrich syndrome ... PAK7, PARD6A, PARD6B, Phospholipase D1, RICS TRIP10, WASL, Wiskott-Aldrich syndrome protein, ROP GTPase GRCh38: Ensembl release ...
WIPF1
"Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP ... The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich ... WIP has been shown to interact with Wiskott-Aldrich syndrome protein, N-WASp, Cortactin, NCK1, MYO1e and ITSN1. While Wiskott- ... Kim MK, Kim ES, Kim DS, Choi IH, Moon T, Yoon CN, Shin JS (October 2004). "Two novel mutations of Wiskott-Aldrich syndrome: the ...
Podosome
To distinguish podosomes from others types of cellular adhesions, the protein Tks5 and WASP (Wiskott-Aldrich syndrome protein) ... Calle, Y; Chou, HC; Thrasher, AJ; Jones, GE (November 2004). "Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of ... Patients who suffer from Wiskott-Aldrich syndrome demonstrate, through their immune cells, continued evidence of the role ... Linder, S; Nelson, D; Weiss, M; Aepfelbacher, M (Aug 17, 1999). "Wiskott-Aldrich syndrome protein regulates podosomes in ...
SH3BP1
Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". J Biol Chem. 277 (31): 28238-46. doi: ...
CD2AP
Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". J. Biol. Chem. 277 (31): 28238-46. doi: ... Badour K, Zhang J, Shi F, McGavin MK, Rampersad V, Hardy LA, Field D, Siminovitch KA (2003). "The Wiskott-Aldrich syndrome ...
CRKL
"CrkL is an adapter for Wiskott-Aldrich syndrome protein and Syk". Blood. 97 (9): 2633-9. doi:10.1182/blood.v97.9.2633. PMID ...
SH3KBP1
Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". The Journal of Biological Chemistry. 277 ( ...
DNM2
Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". J. Biol. Chem. 277 (31): 28238-46. doi: ...
Intersectin 2
ITSN2 has been shown to interact with Wiskott-Aldrich syndrome protein. GRCm38: Ensembl release 89: ENSMUSG00000020640 - ... "The intersectin 2 adaptor links Wiskott Aldrich Syndrome protein (WASp)-mediated actin polymerization to T cell antigen ...
PSTPIP1
... has been shown to interact with: Abl gene BZW1 CD2 PTPN12 PTPN18 Wiskott-Aldrich syndrome protein PAPA syndrome GRCh38 ... Badour K, Zhang J, Shi F, McGavin MK, Rampersad V, Hardy LA, Field D, Siminovitch KA (2003). "The Wiskott-Aldrich syndrome ... Wu Y, Spencer SD, Lasky LA (1998). "Tyrosine phosphorylation regulates the SH3-mediated binding of the Wiskott-Aldrich syndrome ... "CrkL is an adapter for Wiskott-Aldrich syndrome protein and Syk". Blood. 97 (9): 2633-9. doi:10.1182/blood.V97.9.2633. PMID ...
Tyrosine-protein kinase SYK
"CrkL is an adapter for Wiskott-Aldrich syndrome protein and Syk". Blood. 97 (9): 2633-9. doi:10.1182/blood.V97.9.2633. PMID ...
ELMO1
Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". J. Biol. Chem. 277 (31): 28238-46. doi: ... Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". J. Biol. Chem. 277 (31): 28238-46. doi: ...
HCK
Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". The Journal of Biological Chemistry. 277 ( ...
DDEF1
Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". The Journal of Biological Chemistry. 277 ( ...
SF3B3
Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". J. Biol. Chem. 277 (31): 28238-46. doi: ...
TGFB1I1
May 2001). "CrkL is an adapter for Wiskott-Aldrich syndrome protein and Syk". Blood. 97 (9): 2633-2639. doi:10.1182/blood.V97.9 ...
Wiskott-Aldrich syndrome - Wikipedia
Pediatric Wiskott-Aldrich Syndrome Buchbinder, David; Nugent, Diane; Fillipovich, Alexandra (April 2014). "Wiskott-Aldrich ... "Wiskott-Aldrich Syndrome" Wiskott-Aldrich Foundation (Wikipedia articles needing page number citations from July 2015, Articles ... "Wiskott-Aldrich syndrome". Genetics Home Reference. Retrieved 2016-06-26. Aldrich RA, Steinberg AG, Campbell DC (February 1954 ... Outcomes from Wiskott-Aldrich syndrome are variable and depend on how severely an individual is affected (the WAS score may be ...
Wiskott-Aldrich Syndrome: Background, Pathophysiology, Epidemiology
Wiskott-Aldrich syndrome (WAS) is a condition with variable expression, but commonly includes immunoglobulin M (IgM) deficiency ... encoded search term (Wiskott-Aldrich Syndrome) and Wiskott-Aldrich Syndrome What to Read Next on Medscape ... For more information, see Dermatologic Manifestations of Wiskott-Aldrich Syndrome and Pediatic Wiskott-Aldrich Syndrome. ... Wiskott-Aldrich syndrome is named after two physicians who originally described the condition. [1] In 1937, Alfred Wiskott, a ...
Pediatric Wiskott-Aldrich Syndrome Follow-up: Further Inpatient Care, Transfer
Wiskott-Aldrich syndrome (see the image below) is an X-linked recessive immunodeficiency disorder characterized in one third of ... encoded search term (Pediatric Wiskott-Aldrich Syndrome) and Pediatric Wiskott-Aldrich Syndrome What to Read Next on Medscape ... Pediatric Wiskott-Aldrich Syndrome Follow-up. Updated: Apr 28, 2021 * Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi ... Parolini O, Ressmann G, Haas OA, Pawlowsky J, Gadner H, Knapp W. X-linked Wiskott-Aldrich syndrome in a girl. N Engl J Med. ...
Wiskott-Aldrich syndrome Archives - Genetic Support Network Victoria (GSNV)
Wiskott-Aldrich Syndrome / Resources / Clinical Working Party / Working Parties / Home - Esid
A rare presentation of wiskott - aldrich syndrome with macrothrombocytopenia | Pediatric Oncall Journal
Read a rare presentation of Wiskott - Aldrich syndrome with Macrothrombocytopenia. ... A rare presentation of Wiskott - Aldrich syndrome with Macrothrombocytopenia ... A rare presentation of Wiskott - Aldrich syndrome with Macrothrombocytopenia. Bela Verma, Ashwini Ronghe, Priyanka Shukla.. ... Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet. 2014; 7: 55-66. [CrossRef] [ ...
Platelet actin nodules are podosome-like structures dependent on Wiskott-Aldrich syndrome protein and ARP2/3 complex
Nodule formation is dependent on Wiskott-Aldrich syndrome protein (WASp) and the ARP2/3 complex. WASp−/− mouse blood displays ... Platelet actin nodules are podosome-like structures dependent on Wiskott-Aldrich syndrome protein and ARP2/3 complex. ... "Platelet actin nodules are podosome-like structures dependent on Wiskott-Aldrich syndrome protein and ARP2/3 complex." Nature ... required for platelet-platelet interaction and their absence contributes to the bleeding diathesis of Wiskott-Aldrich syndrome. ...
Mum raises money for IVF to save son suffering Wiskott-Aldrich syndrome | That's Life! Magazine
Allogeneic stem cell transplantation in a patient with the Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by a triad of immunodeficiency, eczema, and ... Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78(4):635-44. ... The Wiskott-Aldrich syndrome: disordered actin dynamics in haematopoietic cells. Immunol Rev. 2000;178:118-28. ... X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet. 1995;9( ...
Wiskott-Aldrich Syndrome - Immunology; Allergic Disorders - MSD Manual Professional Edition
Wiskott-Aldrich Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... Wiskott-Aldrich syndrome is caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASP), a ... Wiskott-Aldrich Syndrome By James Fernandez , MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve ... Treatment of Wiskott-Aldrich syndrome is prophylactic antibiotics and immune globulin Replacement of missing immune components ...
Study of gene therapy treatment in Wiskott-Aldrich syndrome - Inserm Newsroom
Wiskott-Aldrich syndrome (WAS) is an X-linked complex immune deficiency caused by mutations in the WAS gene which codes for the ... Long-term Safety and Efficacy of Lentiviral Hematopoietic Stem/Progenitor Cell Gene Therapy for Wiskott-Aldrich Syndrome - ... in 8 patients with Wiskott-Aldrich syndrome (WAS). The results of this work, carried out in parallel at the Hôpital Necker- ... by gene addition confirms its therapeutic interest for a complex deficit of cellular immunity such as Wiskott Aldrich syndrome ...
Assessment of Immature Platelet Fraction in the Diagnosis of Wiskott-Aldrich Syndrome. | Emmes
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: A PIDTC report - Fingerprint
...
A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome is a severe X-linked recessive immune deficiency disorder. A scoring system of Wiskott-Aldrich ... X-linked thrombocytopenia and classic Wiskott-Aldrich syndrome. Hematopoietic cell transplantation is curative for Wiskott- ... A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome.. ... "A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome." ...
Wiskott Aldrich Syndrome: Prevalence, Incidence
WASbase: Wiskott-Aldrich syndrome (WAS) | Publications
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia ... Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.. Chien YH, Hwu WL, Ariga T, Chang KW, Yang YH, Lin KH, Chiang BL. J ... A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.. Beel K, Cotter MM, ... Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with ...
CIENCIASMEDICASNEWS: Wiskott-Aldrich Syndrome - April 22, 2015
Wiskott-Aldrich Syndrome. Wiskott-Aldrich Syndrome - April 22, 2015. What is Wiskott-Aldrich syndrome?. From the NIH Genetics ... Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments.. Buchbinder D et al. Appl Clin Genet 2014 55- ... Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.. Hacein-Bey AS et al. JAMA 2015 Apr 21. (15) ... Gene therapy for Wiskott-Aldrich syndrome.. Bosticardo M et al. Curr Gene Ther 2014 (6) 413-21 ...
Wiskott-Aldrich syndrome: Video, Anatomy & Definition | Osmosis
Wiskott-Aldrich Syndrome | Primary Immune Deficiency Treatment Consortium
Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome
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Patients with Wiskott-Aldrich syndrome (WAS) lacking a human leukocyte antigen-matched donor may benefit from gene therapy ... Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome. ... Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome ... Booth_Long-term safety and efficacy of lentiviral hematopoietic stem:progenitor cell gene therapy for Wiskott-Aldrich syndrome_ ...
Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult.
Pulmonary angiitis with atypical lymphoreticular infiltrates in Wiskott-Aldrich syndrome: Possible relationship of lymphomatoid...
abstract = "We describe a 12-year-old boy with Wiskott-Aldrich syndrome who developed a pulmonary vasculitis associated with ... N2 - We describe a 12-year-old boy with Wiskott-Aldrich syndrome who developed a pulmonary vasculitis associated with ... AB - We describe a 12-year-old boy with Wiskott-Aldrich syndrome who developed a pulmonary vasculitis associated with ... We describe a 12-year-old boy with Wiskott-Aldrich syndrome who developed a pulmonary vasculitis associated with ...
Immunodeficiency disorders: MedlinePlus Medical Encyclopedia
Article - Billing and Coding: Foodborne Gastrointestinal Panels Identified by Multiplex Nucleic Acid Amplification (NAATs) ...
Wiskott-Aldrich syndrome diagnosed after cellulitis at the BCG vaccination site. | Pediatr Int;65(1): e15681, 2023. |...
Wiskott-Aldrich syndrome diagnosed after cellulitis at the BCG vaccination site. Wiskott-Aldrich syndrome diagnosed after ... Síndrome de Wiskott-Aldrich/diagnóstico Prevotella; Bacillus Calmette-Guérin; Wiskott-Aldrich syndrome; genetic testing; ... Vacina BCG; Celulite (Flegmão); Síndrome de Wiskott-Aldrich; Humanos; Vacina BCG/efeitos adversos; Celulite (Flegmão)/ ... Síndrome de Wiskott-Aldrich / Vacina BCG / Celulite (Flegmão) Limite: Humanos Idioma: Inglês Revista: Pediatr Int Ano de ...
Wiskott Aldrich syndrome (WAS) is caused by mutations in the gene - Discovery of Small-Molecule Inhibitors of Receptor
Wiskott Aldrich syndrome (WAS) is caused by mutations in the gene. * Post author By molecularcircuit ... Wiskott Aldrich syndrome (WAS) is caused by mutations in the gene that encodes for a protein (WASp) involved in cytoskeleton ... Intro Wiskott-Aldrich syndrome (WAS) is definitely a rare X-linked immunodeficiency Axitinib caused by mutations of the gene ...
Platelet Function and Response to Thrombopoietin Mimetics In Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia - Radcliffe...
Eczema and the Immune System: Your FAQsThrombocytopenia11
- Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). (wikipedia.org)
- It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. (wikipedia.org)
- Congenital thrombocytopenia with small platelets is the diagnostic hallmark of Wiskott-Aldrich syndrome. (esid.org)
- Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by a triad of immunodeficiency, eczema, and thrombocytopenia. (alliedacademies.org)
- Wiskott-Aldrich syndrome is an immunodeficiency disorder that involves a combined B- and T-cell defect and is characterized by recurrent infection, eczema, and thrombocytopenia. (msdmanuals.com)
- Children with Wiskott-Aldrich syndrome (WAS) are often first diagnosed with immune thrombocytopenia (ITP), potentially leading to both inappropriate treatment and the delay of life-saving definitive therapy. (emmes.com)
- A scoring system of Wiskott-Aldrich syndrome severity (0.5-5) distinguishes two phenotypes: X-linked thrombocytopenia and classic Wiskott-Aldrich syndrome. (duke.edu)
- Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations. (lu.se)
- Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. (lu.se)
- Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology. (lu.se)
- Intro Wiskott-Aldrich syndrome (WAS) is definitely a rare X-linked immunodeficiency Axitinib caused by mutations of the gene that is definitely widely indicated within hematopoietic cells.1 The clinical phenotype of WAS is characterized by congenital thrombocytopenia, combined immunodeficiency, and eczema.1 The WAS protein (WASp) includes several functional domains that couple transmission transduction to reorganization of the actin cytoskeleton. (molecularcircuit.com)
Protein16
- WAS is associated with mutations in a gene on the short arm of the X chromosome (Xp11.23) that was originally termed the Wiskott-Aldrich syndrome protein gene and is officially known as WAS (Gene ID: 7454). (wikipedia.org)
- The gene product, Wiskott-Aldrich Syndrome Protein (WASp) is a 502 amino acid protein expressed within the cytoplasm of non-erythroid hematopoietic cells. (medscape.com)
- WAS results from an X-linked genetic defect in the Wiskott-Aldrich syndrome protein (WASp). (medscape.com)
- Critical requirement for the Wiskott-Aldrich syndrome protein in Th2 effector function. (medscape.com)
- The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. (medscape.com)
- 1) The reason we are reporting this case is due to a rare presentation of WAS where Wiskott Aldrich Syndrome protein (WASp) deficiency was documented but his immunoglobulin levels were within normal limits and instead of the characteristic feature of microthrombocytopenia the patient presented with macrothrombocytopenia. (pediatriconcall.com)
- Nodule formation is dependent on Wiskott-Aldrich syndrome protein (WASp) and the ARP2/3 complex. (harvard.edu)
- Wiskott-Aldrich syndrome is caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASP), a cytoplasmic protein necessary for normal B- and T-cell signaling. (msdmanuals.com)
- Wiskott-Aldrich syndrome (WAS) is an X-linked complex immune deficiency caused by mutations in the WAS gene which codes for the WAS protein (WASp). (inserm.fr)
- Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. (lu.se)
- Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling. (lu.se)
- Wiskott Aldrich syndrome (WAS) is caused by mutations in the gene that encodes for a protein (WASp) involved in cytoskeleton business in hematopoietic cells. (molecularcircuit.com)
- In this study, we demonstrate that the Wiskott-Aldrich syndrome protein (WASp) is an essential component of the cytokine secretory pathway in CD4 + T cells. (aai.org)
- the gene and the protein it encodes were named WASP after the syndrome. (sciencedaily.com)
- Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing. (nih.gov)
- WAVE는 Arp2/3 복합체의 액틴 필라멘트 응집 활성을 촉진하는 WASP(Wiskott-Aldrich syndrome protein) 계통의 단백질이다. (natureasia.com)
WASp3
- A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient. (lu.se)
- They also collected cells from two patients with Wiskott-Aldrich syndrome and generated induced pluripotent stem cells (iPSCs) containing the disease-associated mutations in WASP. (sciencedaily.com)
- These are powerful models that can help us understand how WASP functions and what the underlying cellular mechanisms of Wiskott-Aldrich syndrome are," says Li. (sciencedaily.com)
DiGeorge1
- Other immunodeficiency syndromes, particularly DiGeorge syndrome, may lack T-cell function completely and resemble SCID clinically. (medscape.com)
Platelet3
- We propose actin nodules are platelet podosome-related structures required for platelet-platelet interaction and their absence contributes to the bleeding diathesis of Wiskott-Aldrich syndrome. (harvard.edu)
- Assessment of Immature Platelet Fraction in the Diagnosis of Wiskott-Aldrich Syndrome. (emmes.com)
- For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platelet syndrome, Epstein syndrome, and Fechtner syndrome derive from mutations of the same gene and describe overlapping disorders. (nih.gov)
Mutations2
- Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. (lu.se)
- The genetic mutations associated with Wiskott-Aldrich syndrome, they found, disrupt this process which, in turn, prevents numerous immune and anti-inflammatory proteins from being made correctly. (sciencedaily.com)
Diagnosis3
- Hence a diagnosis of Wiskott Aldrich syndrome with macrothrombocytopenia was made. (pediatriconcall.com)
- We describe a 12-year-old boy with Wiskott-Aldrich syndrome who developed a pulmonary vasculitis associated with lymphoreticular proliferation, consistent with the histological and clinical diagnosis of lymphomatoid granulomatosis. (elsevierpure.com)
- Differential diagnosis includes myelodysplastic syndromes, thalassemias, Gilbert syndrome, hereditary spherocytosis, acute erythroid leukemia (see these terms), folate, iron or vitamin B12 deficiencies as well as infections such as AIDS, malaria (see this term), kala-azar or other acquired or inherited thrombocytopenias. (orpha.net)
Gene therapy4
- Improvement of migratory defects in a murine model of Wiskott-Aldrich syndrome gene therapy. (medscape.com)
- Teams from the AP-HP, University of Paris, Inserm, within the Imagine Institute, the University College of London, and Généthon, have carried out work on treatment by gene therapy consisting of transplanting the patient's own genetically modified hematopoietic stem cells as part of a phase I/II clinical trial, promoted by Genethon, in 8 patients with Wiskott-Aldrich syndrome (WAS). (inserm.fr)
- Patients with Wiskott-Aldrich syndrome (WAS) lacking a human leukocyte antigen-matched donor may benefit from gene therapy through the provision of gene-corrected, autologous hematopoietic stem/progenitor cells. (ucl.ac.uk)
- Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult. (genethon.com)
Hematopoietic1
- Low T Cell Numbers Resembling T-B+ SCID in a Patient with Wiskott-Aldrich Syndrome and the Outcome of Two Hematopoietic Stem Cell Transplantations. (medscape.com)
Genetic2
- Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. (medscape.com)
- Researchers have discovered a new underlying cause of Wiskott-Aldrich syndrome, a rare genetic disease that leads to bleeding and immune deficiencies in babies. (sciencedaily.com)
Microthrombocytopenia1
- Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by the clinical triad of microthrombocytopenia, eczema, and recurrent infections. (medscape.com)
Recessive1
- Wiskott-Aldrich syndrome is a severe X-linked recessive immune deficiency disorder. (duke.edu)
Transplantation4
- Cutaneous manifestations in patients with Wiskott-Aldrich syndrome submitted to haematopoietic stem cell transplantation. (medscape.com)
- Allogeneic stem cell transplantation in a patient with the Wiskott-Aldrich syndrome. (alliedacademies.org)
- Scholars@Duke publication: A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome. (duke.edu)
- In conclusion, umbilical cord blood transplantation is a good alternative option for young children with Wiskott-Aldrich syndrome lacking an HLA identical stem cell donor. (duke.edu)
Biomarker2
- IL-18: A potential inflammation biomarker in Wiskott-Aldrich syndrome. (medscape.com)
- These RNA splicing factors could both be a biomarker for monitoring Wiskott-Aldrich syndrome, and a potential target for treatment," says Izpisua Belmonte. (sciencedaily.com)
Immunoglobulin1
- Buckley et al expanded the clinical picture in 1972 and reported the association with elevated immunoglobulin E (IgE) in patients with hyperimmunoglobulin E syndrome. (medscape.com)
Patients3
- Pathological events in platelets of Wiskott-Aldrich syndrome patients. (msdmanuals.com)
- Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families. (lu.se)
- Hyperimmunoglobulin E syndrome (HIES) was first described as Job syndrome in 1966, when 2 patients were reported with eczematous dermatitis, recurrent staphylococcal boils, hyperextensible joints/recurrent bone fractures, and distinctive coarse faces. (medscape.com)
Proteins1
- The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. (thermofisher.com)
Molecular2
- Somatic mosaicism in the Wiskott-Aldrich syndrome: Molecular and functional characterization of genotypic revertants. (medscape.com)
- The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes. (medscape.com)
Manifestations2
- For more information, see Dermatologic Manifestations of Wiskott-Aldrich Syndrome and Pediatic Wiskott-Aldrich Syndrome . (medscape.com)
- Candotti F. Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome. (medscape.com)
Symptoms2
- Later, in 1954, Robert Aldrich, an American pediatrician, reported a Dutch kindred of boys who all died of similar clinical symptoms described by Wiskott, clearly demonstrating an X-linked mode of inheritance. (medscape.com)
- Babies with Wiskott-Aldrich syndrome begin to develop symptoms quickly after birth: itchy, scaly rashes, frequent bruises and nose bleeds are some of the first signs. (sciencedaily.com)
Pathophysiology1
- Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. (medscape.com)
Immune1
- Wiskott-Aldrich syndrome (WAS) is a serious medical condition that causes problems both with the immune system and with blood clotting. (rarediseasesnetwork.org)
Patient3
- In general, admit a patient with Wiskott-Aldrich syndrome (WAS) with bleeding or pulmonary infection because the extent of bleeding may be difficult to ascertain or bleeding may be difficult to control. (medscape.com)
- 10-year Global patient forecast for Wiskott Aldrich Syndrome. (blueprintorphan.com)
- Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome. (lu.se)
Eczematous2
- Eczematous lesions in Wiskott-Aldrich syndrome. (medscape.com)
- 2] Hyperimmunoglobulin E syndrome is now recognized as a primary immunodeficiency disease characterized by recurrent skin abscesses, recurrent pneumonica with pneumotocele, eczematous dermatitis, and elevated serum IgE levels. (medscape.com)
Clinical2
- High early mortality rates and a high rate of complications in Wiskott-Aldrich syndrome suggest frequent monitoring by a clinical immunologist is essential. (medscape.com)
- He did not exhibit any characteristic clinical and laboratory findings indicating the syndrome. (pediatriconcall.com)
Mutation1
- A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. (lu.se)
Humans1
- These results suggest that drugs targeting SRSF2 could treat Wiskott-Aldrich syndrome in humans, the researchers say. (sciencedaily.com)
Rare1
- Verma B, Ronghe A, Shukla P. A rare presentation of Wiskott - Aldrich syndrome with Macrothrombocytopenia. (pediatriconcall.com)
Deletion1
- Of note, the original family described by Wiskott was confirmed to have a deletion of two nucleotides (AC73-74del) of the WAS gene. (medscape.com)
Disease1
- A Streptococcus-related disease including toxic shock syndrome. (cdc.gov)
Human1
- People with HIV (human immunodeficiency virus) or AIDS (acquired immunodeficiency syndrome) have a greater risk of developing some types of NHL. (cancer.ca)
