Autoimmune Lymphoproliferative Syndrome
Lymphoproliferative Disorders
Antigens, CD95
Autoimmune Diseases
Caspase 10
Anemia, Hemolytic, Autoimmune
Fas Ligand Protein
Apoptosis
Mutation
T-Lymphocytes
Fas stimulation of T lymphocytes promotes rapid intercellular exchange of death signals via membrane nanotubes. (1/30)
(+info)Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). (2/30)
(+info)Primary immunodeficiencies (PIDs) presenting with cytopenias. (3/30)
(+info)Childhood polyarteritis nodosa in autoimmune lymphoproliferative syndrome. (4/30)
(+info)Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. (5/30)
(+info)Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. (6/30)
(+info)ALPS-ten lessons from an international workshop on a genetic disease of apoptosis. (7/30)
(+info)Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. (8/30)
(+info)Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare disorder of the immune system, primarily affecting children. It is characterized by an abnormal accumulation of certain types of white blood cells (lymphocytes), leading to an overactive immune response that can damage the body's own tissues and organs. This condition can also increase the risk of developing lymphoma and other malignancies.
In ALPS, there is a defect in the regulation of programmed cell death (apoptosis) of lymphocytes, which results in their excessive accumulation. The disorder is typically caused by genetic mutations that affect the FAS gene or its signaling pathway, leading to impaired immune function and autoimmunity.
Symptoms of ALPS may include:
1. Swollen lymph nodes (lymphadenopathy)
2. Enlarged spleen (splenomegaly) and/or liver (hepatomegaly)
3. Autoimmune disorders, such as anemia, thrombocytopenia, or neutropenia
4. Increased susceptibility to infections
5. Fatigue and weakness
6. Unintentional weight loss
7. Skin rashes or lesions
8. Neurological symptoms, such as seizures or developmental delays (in some cases)
Diagnosis of ALPS is based on clinical features, laboratory tests, and genetic analysis. Treatment usually involves a combination of immunosuppressive medications, targeted therapies, and supportive care to manage symptoms and prevent complications. Regular follow-up with a healthcare provider is essential for monitoring disease progression and adjusting treatment plans as needed.
Lymphoproliferative disorders (LPDs) are a group of diseases characterized by the excessive proliferation of lymphoid cells, which are crucial components of the immune system. These disorders can arise from both B-cells and T-cells, leading to various clinical manifestations ranging from benign to malignant conditions.
LPDs can be broadly classified into reactive and neoplastic categories:
1. Reactive Lymphoproliferative Disorders: These are typically triggered by infections, autoimmune diseases, or immunodeficiency states. They involve an exaggerated response of the immune system leading to the excessive proliferation of lymphoid cells. Examples include:
* Infectious mononucleosis (IM) caused by Epstein-Barr virus (EBV)
* Lymph node enlargement due to various infections or autoimmune disorders
* Post-transplant lymphoproliferative disorder (PTLD), which occurs in the context of immunosuppression following organ transplantation
2. Neoplastic Lymphoproliferative Disorders: These are malignant conditions characterized by uncontrolled growth and accumulation of abnormal lymphoid cells, leading to the formation of tumors. They can be further classified into Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL). Examples include:
* Hodgkin lymphoma (HL): Classical HL and nodular lymphocyte-predominant HL
* Non-Hodgkin lymphoma (NHL): Various subtypes, such as diffuse large B-cell lymphoma, follicular lymphoma, mantle cell lymphoma, and Burkitt lymphoma
It is important to note that the distinction between reactive and neoplastic LPDs can sometimes be challenging, requiring careful clinical, histopathological, immunophenotypic, and molecular evaluations. Proper diagnosis and classification of LPDs are crucial for determining appropriate treatment strategies and predicting patient outcomes.
CD95 (also known as Fas or APO-1) is a type of cell surface receptor that can bind to specific proteins and trigger programmed cell death, also known as apoptosis. It is an important regulator of the immune system and helps to control the activation and deletion of immune cells. CD95 ligand (CD95L), the protein that binds to CD95, is expressed on activated T-cells and can induce apoptosis in other cells that express CD95, including other T-cells and tumor cells.
An antigen is any substance that can stimulate an immune response, leading to the production of antibodies or activation of immune cells. In the context of CD95, antigens may refer to substances that can induce the expression of CD95 on the surface of cells, making them susceptible to CD95L-mediated apoptosis. These antigens could include viral proteins, tumor antigens, or other substances that trigger an immune response.
Therefore, the medical definition of 'antigens, CD95' may refer to substances that can induce the expression of CD95 on the surface of cells and make them targets for CD95L-mediated apoptosis.
Autoimmune diseases are a group of disorders in which the immune system, which normally protects the body from foreign invaders like bacteria and viruses, mistakenly attacks the body's own cells and tissues. This results in inflammation and damage to various organs and tissues in the body.
In autoimmune diseases, the body produces autoantibodies that target its own proteins or cell receptors, leading to their destruction or malfunction. The exact cause of autoimmune diseases is not fully understood, but it is believed that a combination of genetic and environmental factors contribute to their development.
There are over 80 different types of autoimmune diseases, including rheumatoid arthritis, lupus, multiple sclerosis, type 1 diabetes, Hashimoto's thyroiditis, Graves' disease, psoriasis, and inflammatory bowel disease. Symptoms can vary widely depending on the specific autoimmune disease and the organs or tissues affected. Treatment typically involves managing symptoms and suppressing the immune system to prevent further damage.
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.
Caspase-10 is a type of protease enzyme that plays a crucial role in programmed cell death, also known as apoptosis. It is a member of the cysteine-aspartic acid protease (caspase) family, which are proteases that specifically cleave their substrates after an aspartic acid residue. Caspase-10 is activated in response to various cellular signals, such as those triggered by immune responses or DNA damage, and it contributes to the execution of apoptosis by cleaving and activating other downstream effector caspases. Additionally, caspase-10 has been implicated in the regulation of inflammatory responses.
Splenomegaly is a medical term that refers to an enlargement or expansion of the spleen beyond its normal size. The spleen is a vital organ located in the upper left quadrant of the abdomen, behind the stomach and below the diaphragm. It plays a crucial role in filtering the blood, fighting infections, and storing red and white blood cells and platelets.
Splenomegaly can occur due to various underlying medical conditions, including infections, liver diseases, blood disorders, cancer, and inflammatory diseases. The enlarged spleen may put pressure on surrounding organs, causing discomfort or pain in the abdomen, and it may also lead to a decrease in red and white blood cells and platelets, increasing the risk of anemia, infections, and bleeding.
The diagnosis of splenomegaly typically involves a physical examination, medical history, and imaging tests such as ultrasound, CT scan, or MRI. Treatment depends on the underlying cause and may include medications, surgery, or other interventions to manage the underlying condition.
Hemolytic anemia, autoimmune is a type of anemia characterized by the premature destruction of red blood cells (RBCs) in which the immune system mistakenly attacks and destroys its own RBCs. This occurs when the body produces autoantibodies that bind to the surface of RBCs, leading to their rupture (hemolysis). The symptoms may include fatigue, weakness, shortness of breath, and dark colored urine. The diagnosis is made through blood tests that measure the number and size of RBCs, reticulocyte count, and the presence of autoantibodies. Treatment typically involves suppressing the immune system with medications such as corticosteroids or immunosuppressive drugs, and sometimes removal of the spleen (splenectomy) may be necessary.
Fas Ligand Protein (FasL or CD95L) is a type II transmembrane protein belonging to the tumor necrosis factor (TNF) superfamily. It plays a crucial role in programmed cell death, also known as apoptosis. The FasL protein binds to its receptor, Fas (CD95 or APO-1), which is found on the surface of various cells including immune cells. This binding triggers a signaling cascade that leads to apoptosis, helping to regulate the immune response and maintain homeostasis in tissues.
FasL can also be produced as a soluble protein (sFasL) through alternative splicing or proteolytic cleavage of the membrane-bound form. Soluble FasL may have different functions compared to its membrane-bound counterpart, and its role in physiology and disease is still under investigation.
Dysregulation of the Fas/FasL system has been implicated in various pathological conditions, including autoimmune diseases, neurodegenerative disorders, and cancer.
Apoptosis is a programmed and controlled cell death process that occurs in multicellular organisms. It is a natural process that helps maintain tissue homeostasis by eliminating damaged, infected, or unwanted cells. During apoptosis, the cell undergoes a series of morphological changes, including cell shrinkage, chromatin condensation, and fragmentation into membrane-bound vesicles called apoptotic bodies. These bodies are then recognized and engulfed by neighboring cells or phagocytic cells, preventing an inflammatory response. Apoptosis is regulated by a complex network of intracellular signaling pathways that involve proteins such as caspases, Bcl-2 family members, and inhibitors of apoptosis (IAPs).
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
Lymphatic diseases refer to a group of conditions that affect the lymphatic system, which is an important part of the immune and circulatory systems. The lymphatic system consists of a network of vessels, organs, and tissues that help to transport lymph fluid throughout the body, fight infection, and remove waste products.
Lymphatic diseases can be caused by various factors, including genetics, infections, cancer, and autoimmune disorders. Some common types of lymphatic diseases include:
1. Lymphedema: A condition that causes swelling in the arms or legs due to a blockage or damage in the lymphatic vessels.
2. Lymphoma: A type of cancer that affects the lymphatic system, including Hodgkin's and non-Hodgkin's lymphoma.
3. Infections: Certain bacterial and viral infections can affect the lymphatic system, such as tuberculosis, cat-scratch disease, and HIV/AIDS.
4. Autoimmune disorders: Conditions such as rheumatoid arthritis, lupus, and scleroderma can cause inflammation and damage to the lymphatic system.
5. Congenital abnormalities: Some people are born with abnormalities in their lymphatic system, such as malformations or missing lymph nodes.
Symptoms of lymphatic diseases may vary depending on the specific condition and its severity. Treatment options may include medication, physical therapy, surgery, or radiation therapy. It is important to seek medical attention if you experience symptoms of a lymphatic disease, as early diagnosis and treatment can improve outcomes.
T-lymphocytes, also known as T-cells, are a type of white blood cell that plays a key role in the adaptive immune system's response to infection. They are produced in the bone marrow and mature in the thymus gland. There are several different types of T-cells, including CD4+ helper T-cells, CD8+ cytotoxic T-cells, and regulatory T-cells (Tregs).
CD4+ helper T-cells assist in activating other immune cells, such as B-lymphocytes and macrophages. They also produce cytokines, which are signaling molecules that help coordinate the immune response. CD8+ cytotoxic T-cells directly kill infected cells by releasing toxic substances. Regulatory T-cells help maintain immune tolerance and prevent autoimmune diseases by suppressing the activity of other immune cells.
T-lymphocytes are important in the immune response to viral infections, cancer, and other diseases. Dysfunction or depletion of T-cells can lead to immunodeficiency and increased susceptibility to infections. On the other hand, an overactive T-cell response can contribute to autoimmune diseases and chronic inflammation.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
Autoimmune lymphoproliferative syndrome
List of OMIM disorder codes
Caspase-8 deficiency
Hemophagocytic lymphohistiocytosis
RAS-associated autoimmune leukoproliferative disorder
CHAI disease
MTOR
Stephen Straus
Lymphocytic interstitial pneumonia
Michael J. Lenardo
Evans syndrome
Adenosine deaminase 2 deficiency
Fas receptor
Autoinflammatory diseases
Caspase 10
Fas ligand
HLA-B44
Death domain
Decoy receptor 3
Alps (disambiguation)
Lymphoproliferative disorders
Epstein-Barr virus-associated lymphoproliferative diseases
Hereditary cancer syndrome
RASopathy
Castleman disease
ALPS
Index of molecular biology articles
List of primary immunodeficiencies
List of syndromes
Eosinophilia
Autoimmune lymphoproliferative syndrome - Wikipedia
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Autoimmune Lymphoproliferative Syndrome: Background, Pathophysiology, Etiology
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ALPS20
- Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). (wikipedia.org)
- Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers. (wikipedia.org)
- 5% virtually pathognomonic for ALPS Mild elevations also found in other autoimmune diseases Thought to be cytotoxic T lymphocytes that have lost CD8 expression Unknown if driver of disease or epiphenomenon May be falsely elevated in setting of lymphopenia or falsely decreased with immunosuppressive treatment Biomarkers Polyclonal hypergammaglobulinemia Elevated serum FASL Elevated plasma IL-10 and/or IL-18 Elevated plasma or serum vitamin B12 Autoantibodies: Non-specific. (wikipedia.org)
- Another sign is autoimmune cytopenias and polyclonal hypergammaglobulinemia and a family history of ALPS or non-malignant lymphoproliferation. (wikipedia.org)
- No longer considered a subtype of ALPS but distinct disease Treatment is most commonly directed at autoimmune disease and may be needed to treat bulky lymphoproliferation. (wikipedia.org)
- Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). (medlineplus.gov)
- Autoimmune disorders are also common in ALPS. (medlineplus.gov)
- Less commonly, autoimmune disorders that affect other organs and tissues occur in people with ALPS. (medlineplus.gov)
- Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder of lymphocyte homeostasis. (medscape.com)
- [ 1 ] ALPS is the first disease known to be caused by a primary defect in programmed cell death and the first description of a monogenic cause of autoimmune disease. (medscape.com)
- [ 2 ] Other ALPS-associated genetic defects in the apoptotic pathway and ALPS-like disorders (ALPS-related syndromes) have subsequently been identified. (medscape.com)
- Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare, severe disorder that has been described in British Shorthair cats. (wisdompanel.com)
- Autoimmune lymphoproliferative syndrome (ALPS) is characterized by nonmalignant lymphadenopathy, splenomegaly, and autoimmune cytopenias. (medscape.com)
- ALPS-related disorders have features similar to those of ALPS but have several additional characteristics, such as additional defective T-, B-, and natural killer (NK)-cell activation in caspase 8 deficiency state (CEDS), or are missing required diagnostic features, such as an elevated number of DNT cells, as seen in RAS-associated autoimmune leukoproliferative disease (RALD). (medscape.com)
- Cytokine expression in CD4 - CD8 - double-negative (DN) T cells of autoimmune lymphoproliferative syndrome (ALPS) was analysed. (elsevierpure.com)
- Autoimmune lymphoproliferative syndrome (ALPS) in a patient with common variable immunodeficiency (CVID): Fas deficiency with increased apoptosis. (yumaregional.org)
- [ 9 ] Teachey et al demonstrated that more than half (58%) of patients with Evans syndrome might have autoimmune lymphoproliferative syndrome (ALPS), a novel finding with potentially important therapeutic implications. (medscape.com)
- Of 45 children diagnosed with Evans Syndrome, 21 were found to have autoimmune lymphoproliferative syndrome (ALPS) instead, report researchers from data gathered from 22 institutions. (pdsa.org)
- The researchers recommend that children diagnosed with Evans Syndrome be tested for ALPS, because there are different treatment approaches for the two diseases and a splenectomy or rituximab may be harmful to ALPS patients. (pdsa.org)
- Patients with a mutation in FAS develop an autoimmune disease known as Autoimmune Lymphoproliferative Syndrome (ALPS) in which the body cannot control the number of immune cells (lymphocytes). (garvan.org.au)
Hemolytic anemia7
- These include autoimmune hemolytic anemia, autoimmune neutropenia, and autoimmune thrombocytopenia. (wikipedia.org)
- Autoimmune disorders typically develop several years later, most frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. (medlineplus.gov)
- Evans syndrome is the coexistence of simultaneous or sequential direct Coombs-positive autoimmune hemolytic anemia (AIHA) with immune-mediated thrombocytopenia. (medscape.com)
- The exact pathophysiology of Evans syndrome is unknown, although the mechanism generally seems to be related to the one associated with autoimmune hemolytic anemia and immune thrombocytopenia. (medscape.com)
- A combination of autoimmune hemolytic anemia and immunologic thrombocytopenic purpura. (standardofcare.com)
- Reported that between 10% and 23% of patients who have autoimmune hemolytic anemia, will also have thrombocytopenia and thus Evans syndrome. (standardofcare.com)
- Autoimmune cytopenias (hemolytic anemia, thrombocytopenia, or neutropenia) AND elevated immunoglobulin G levels (polyclonal hypergammaglobulinemia) is part of the revised diagnostic criteria for APLS. (thebloodproject.com)
Cytopenias2
- The most common autoimmune presentations include autoimmune cytopenias, which can be mild to very severe and intermittent or chronic. (wikipedia.org)
- The constellation of lymphadenopathy, splenomegaly, and autoimmune cytopenias necessitating long-term immunosuppressive treatment with mycophenolate mofetil makes diagnosis and management of these patients quite challenging. (medscape.com)
Disease15
- citation needed] Autoimmune disease is the second most common clinical manifestation and one that most often requires treatment. (wikipedia.org)
- Autoimmune Lymphoproliferative Syndrome is a disease of the immune system which can cause the lymph nodes to become severely enlarged. (wisdompanel.com)
- Please note: It is possible that disease signs similar to the ones caused by the Autoimmune Lymphoproliferative Syndrome mutation could develop due to a different genetic or clinical cause. (wisdompanel.com)
- Sinus histiocytosis with massive lymphadenopathy (SHML), also designated as Rosai-Dorfman disease (RDD), is a rare benign reactive lymphoproliferative disorder. (bmj.com)
- Sjögren's syndrome (SS) is a chronic inflammatory and lymphoproliferative autoimmune disease of unknown aetiology. (nih.gov)
- Nephrology: nephritis, nephritic proteinuria associated with systemic autoimmune disease. (clevelandclinic.org)
- [ 10 ] Several cases of Evans syndrome have also been reported in association with the group of lymphoproliferative disorders known as Castleman disease. (medscape.com)
- The cell surface protein Fas (CD95) and its ligand play a pivotal role in regulating lymphocyte apoptosis, and defective expression of either Fas or Fas ligand results in marked overaccumulation of mature lymphocytes and autoimmune disease in mice. (medscape.com)
- Foell D, Roth J. Proinflammatory S100 proteins in arthritis and autoimmune disease. (scielo.br)
- Australian researchers believe they have discovered a group of cells that trigger autoimmune disease, as well as the molecular 'trigger guard' that normally holds them in check. (garvan.org.au)
- When we develop an autoimmune disease, we create antibodies that attack ourselves. (garvan.org.au)
- Such cells must be inactivated in order to avoid autoimmune disease. (garvan.org.au)
- An autoimmune disease in which an individual's antibodies attack their own red blood cells and platelets. (standardofcare.com)
- Is most commonly associated with liver disease, acute or chronic inflammation, autoimmune disorders and certain malignancies. (thebloodproject.com)
- Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. (nih.gov)
Diseases3
- A failure of apoptosis leads to inappropriate cell survival and diseases associated with excessive accumulations of cells such as cancer, chronic inflammatory conditions, and autoimmune diseases. (medscape.com)
- The Center for Pediatric Rheumatology provides comprehensive diagnosis, treatment, and follow-up care for children and adolescents who are living with juvenile arthritis and a wide range of autoimmune and rheumatologic diseases. (clevelandclinic.org)
- Rheumatic and autoimmune diseases are disorders which can affect any part of the body including the joints, muscles, connective tissues, and soft tissues around the joints and bones. (clevelandclinic.org)
Thrombocytopenia2
- white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). (medlineplus.gov)
- Federal health officials are investigating a 'somewhat elevated rate' of thrombocytopenia (low platelets), Guillain-Barre' syndrome, and Bell's palsy from H1N1 vaccinations. (pdsa.org)
Lymphadenopathy2
- 6 months) non-malignancy and non-infectious uncontrolled proliferation of lymphocytes commonly accompanied by autoimmune manifestations, lymphadenopathy, splenomegaly, and susceptibility to malignancies. (medscape.com)
- RALD is characterized by splenomegaly, persistent monocytosis, hypergammaglobulinemia and cytopenia, but can also include autoimmune features and lymphadenopathy. (biomedcentral.com)
Cytopenia1
- First line therapies include corticosteroids (very active but toxic with chronic use), and IVIgG, which are not as effective as in other immune cytopenia syndromes. (wikipedia.org)
Splenomegaly1
- This case of idiopathic splenomegaly in childhood due to a somatic variant in KRAS expands our understanding of the clinical spectrum of RAS-associated autoimmune leukoproliferative disorder and emphasizes the value of securing a molecular diagnosis in children with unusual early-onset presentations with a suspected monogenic origin. (biomedcentral.com)
Apoptosis1
- Autoimmune lymphoproliferative syndrome in a patient with common variable immunodeficiency: dichotomy of apoptosis. (yumaregional.org)
Mutation3
- A carrier cat with one copy of the Autoimmune Lymphoproliferative Syndrome mutation can be safely bred with a clear cat with no copies of the Autoimmune Lymphoproliferative Syndrome mutation. (wisdompanel.com)
- About half of the kittens will have one copy (carriers) and half will have no copies of the Autoimmune Lymphoproliferative Syndrome mutation. (wisdompanel.com)
- NRAS mutation causes a human autoimmune lymphoproliferative syndrome. (lu.se)
Mutations1
- Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. (bvsalud.org)
Autoinflammatory2
- Familial Cold Autoinflammatory syndrome (FCAS). (clevelandclinic.org)
- Genetics: monogenetic autoimmune and autoinflammatory syndromes. (clevelandclinic.org)
Manifestations1
- Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. (cancer.gov)
Deficiency3
- Mevalonate kinase deficiency (aka Hyper IgD syndrome). (clevelandclinic.org)
- PURPOSE: IGSF1 deficiency syndrome (immunoglobulin superfamily member 1) is considered the most common sex-linked cause of secondary congenital hypothyroidism and is characterized by a wide variety of other clinical and biochemical features, including hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism. (bvsalud.org)
- His808Profs*14), in IGSF1 gene was detected, establishing the diagnosis of the IGSF1 deficiency syndrome. (bvsalud.org)
Pathophysiology3
- [ 4 ] This provided insights into the pathophysiology of a similar syndrome seen in humans. (medscape.com)
- Although Evans syndrome seems to be a disorder of immune regulation, the exact pathophysiology is unknown, and the underlying etiology is unclear. (medscape.com)
- The exact pathophysiology of Evans syndrome is unknown. (medscape.com)
Polyendocrinopathy1
- Endocrinology: autoimmune polyendocrinopathy (APECED). (clevelandclinic.org)
Children with Evans syndrome1
- Seif AE et al, "Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. (pdsa.org)
Lymphoid1
- Savasan et al observed that more than half of the patients with Evans syndrome had evidence of lymphoid hyperactivity. (medscape.com)
Leukoproliferative1
- Non-malignant somatic KRAS variants underlie a subset of RAS-associated autoimmune leukoproliferative disorders (RALD). (biomedcentral.com)
Uveitis1
- uveitis), or nerves (Guillain-Barre syndrome). (medlineplus.gov)
Disorders that affect1
- Our center is recognized for excellence in the diagnosis and management of a variety of inflammatory and autoimmune disorders that affect the joints, muscles, skin, blood vessels, brain, and other vital organs. (clevelandclinic.org)
Lymphocytes1
- As a result, excess lymphocytes accumulate in the body's tissues and organs and often begin attacking them, leading to autoimmune disorders. (medlineplus.gov)
Patients1
- Macrosomia in patients with isolated secondary central hypothyroidism is a strong indicator of IGSF1 syndrome. (bvsalud.org)
Secondary1
- Vascular medicine: Raynaud's syndrome (primary and secondary). (clevelandclinic.org)
Sjogren's1
- McGovern TW, Erickson AR, Fitzpatrick JE: Sjogren's syndrome panniculitis with hypergammaglobulinemic purpura. (psnmo.net)
20171
- 2017). A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. (wisdompanel.com)
Immunodeficiency syndrome1
- DOCK8 immunodeficiency syndrome is a disorder of the immune system. (nih.gov)
Proteinuria2
- Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. (nih.gov)
- Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. (nih.gov)
Familial1
- Familial Mediterranean Fever Syndrome (FMF). (clevelandclinic.org)
Immune system1
- Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. (medlineplus.gov)