Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.
Diseases affecting the orderly growth and persistence of hair.
Abnormal development of cartilage and bone.
Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
Pathological processes involving the chondral tissue (CARTILAGE).
Genes involved in activating the enzyme VDJ recombinase. RAG-1 is located on chromosome 11 in humans (chromosome 2 in mice) and is expressed exclusively in maturing lymphocytes.
A characteristic symptom complex.
Recombinases involved in the rearrangement of immunity-related GENES such as IMMUNOGLOBULIN GENES and T-CELL RECEPTOR GENES.

The mouse Aire gene: comparative genomic sequencing, gene organization, and expression. (1/177)

Mutations in the human AIRE gene (hAIRE) result in the development of an autoimmune disease named APECED (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; OMIM 240300). Previously, we have cloned hAIRE and shown that it codes for a putative transcription-associated factor. Here we report the cloning and characterization of Aire, the murine ortholog of hAIRE. Comparative genomic sequencing revealed that the structure of the AIRE gene is highly conserved between human and mouse. The conceptual proteins share 73% homology and feature the same typical functional domains in both species. RT-PCR analysis detected three splice variant isoforms in various mouse tissues, and interestingly one isoform was conserved in human, suggesting potential biological relevance of this product. In situ hybridization on mouse and human histological sections showed that AIRE expression pattern was mainly restricted to a few cells in the thymus, calling for a tissue-specific function of the gene product.  (+info)

Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down's syndrome? (2/177)

AIMS: To examine the age of onset of insulin dependent diabetes mellitus (IDDM) in children with Down's syndrome compared with non-trisomic individuals, and to assess whether differences might be related to disomic homozygosity at the autoimmune polyglandular disease type 1 (APECED) gene locus. METHODS: Children with Down's syndrome and IDDM were identified through the Down's syndrome association newsletter and from paediatricians. DNA was extracted from mouthbrush preparations provided by the parents and patients using standard techniques. Mapping techniques were then used to identify areas of reduction to homozygosity, including a marker that overlaps the locus for APECED. The frequency of disomic homozygosity for all markers (n = 18) was compared with a control group of 99 patients with Down's syndrome and their parents. The families also answered a questionnaire concerning diabetes and related autoimmune conditions in the family. Details were compared with the British Paediatric Surveillance Group 1988 diabetes study. RESULTS: Children with Down's syndrome and IDDM were diagnosed significantly earlier than the general population (6.7 v 8.0 years) with a far higher proportion diagnosed in the first 2 years of life (22% v 7%). There was no evidence of increased disomic homozygosity in the region of the APECED locus in Down's syndrome patients with IDDM compared with simple Down's syndrome. CONCLUSIONS: The natural history of IDDM in Down's syndrome is different from that of the general population. Although children with Down's syndrome have features similar to cases of APECED, disomic homozygosity in this region does not explain the predilection for autoimmune disease.  (+info)

Comparative analysis of epitope recognition of glutamic acid decarboxylase (GAD) by autoantibodies from different autoimmune disorders. (3/177)

Autoantibodies to GAD, an important marker of the autoimmune process in type I or insulin-dependent diabetes mellitus (IDDM), are also found in non-diabetic individuals with autoimmune polyendocrine syndrome type 1 (APS1), APS2, and stiff man syndrome (SMS). Most IDDM sera contain two distinct GAD antibody specificities, one of which targets an epitope region in the middle-third of GAD65 (IDDM-E1; amino acids 221-359) and one of which targets the carboxy-third of GAD65 (IDDM-E2; amino acids 453-569). Using 11 chimeric GAD65/GAD67 proteins to maintain conformation-dependent epitopes of GAD65, we compared the humoral repertoire of IgG antibodies from an individual with APS2-like disease (b35, b78, and b96) and MoAbs from an IDDM patient (MICA-2, MICA-3, and MICA-4). Neither the APS2 IgG antibodies nor the IDDM MoAbs bind the amino-terminal third of GAD65, but instead target the carboxy-terminal two-thirds of GAD65. Amino acids 270-359 (IDDM-E1) are targeted by one APS2 IgG antibody and MICA-4, while two other APS2 IgG antibodies, MICA-2 and MICA-3, target amino acids 443-585 (IDDM-E2). Using GAD65/67 chimera that span the IDDM-E2 region, we found that MICA-2 binds amino acids 514-528 of GAD65, but two APS2 IgG antibodies require this region and amino acids 529-570. In contrast, the binding of MICA-3 requires two discontinuous amino acid segments of GAD65 (452-513 and 528-569), but not amino acids 514-528. These results indicate that there are both similarities and differences in the humoral response to GAD65 in APS2 and IDDM.  (+info)

Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. (4/177)

In the autosomal recessively inherited autoimmune polyendocrine syndrome type I (APS I) patients have autoantibodies directed against several endocrine and nonendocrine organs. Alopecia areata is present in about one-third of the patients and usually in the more severe forms, alopecia universalis or totalis. Sera from 39 patients with APS I, diluted 1:150, were used in indirect immunofluorescence staining of cryo-sections from normal human scalp. Two hair follicle staining patterns were observed. A cytoplasmic staining of the differentiating matrix, cuticle, and cortex keratinocytes in the anagen hair follicle was seen in five (13%) APS I sera. All these five patients had alopecia totalis, representing 63% of the eight patients with alopecia totalis (p < 0.0001). Furthermore, four (10%) of the APS I sera stained the nuclei of the melanocytes in the hair follicle. Two of these patients had vitiligo. None of 20 healthy control sera stained the keratinocyte cells or the melanocyte nuclei. These data show that many patients with APS I have high-titer autoantibodies directed against the anagen matrix, cuticle, and cortex keratinocytes and a melanocyte nuclear antigen, and also that the hair follicle keratinocyte staining is associated with alopecia, especially alopecia totalis. This study emphasizes the role of the differentiating anagen keratinocytes as an important structure in the autoimmune etiology of alopecia, both in APS I and at least in a subgroup of patients with alopecia areata unrelated to APS I.  (+info)

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. (5/177)

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autosomal disease with recessive inheritance. It is characterized by multiple autoimmune endocrinopathies, chronic mucocutaneous candidiasis, and ectodermal dystrophies. The defective gene responsible for this disease was recently isolated, and several different mutations in the novel gene, AIRE, have been identified, by us and by others, in patients with APECED. We have shown that the APECED protein is mainly localized, both in vitro and in vivo, to the cell nucleus, where it forms distinct speckles. This accords with the predicted structural features of the protein, which suggest involvement of AIRE in the regulation of gene transcription. Here, we report the results of mutational analyses of a series of 112 patients with APECED who were from various ethnic backgrounds. A total of 16 different mutations, covering 91% of disease alleles, were observed; of these, 8 were novel. The mutations are spread throughout the coding region of AIRE, yet four evident mutational hotspots were observed. In vitro expression of four different naturally occurring nonsense and missense mutations revealed a dramatically altered subcellular location of the protein in cultured cells. Interestingly, the wild-type APECED protein tethered to the Gal4 DNA-binding domain acted as a strong transcriptional activator of reporter genes in mammalian cells, whereas most of the analyzed mutant polypeptides had lost this capacity.  (+info)

X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. (6/177)

We describe genetic analysis of a large pedigree with an X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea (XPID), which frequently results in death during infancy or childhood. Linkage analysis mapped the XPID gene to a 17-cM interval defined by markers DXS8083 and DXS8107 on the X chromosome, at Xp11. 23-Xq13.3. The maximum LOD score was 3.99 (recombination fraction0) at DXS1235. Because this interval also harbors the gene for Wiskott-Aldrich syndrome (WAS), we investigated mutations in the WASP gene, as the molecular basis of XPID. Northern blot analysis detected the same relative amount and the same-sized WASP message in patients with XPID and in a control. Analysis of the WASP coding sequence, an alternate promoter, and an untranslated upstream first exon was carried out, and no mutations were found in patients with XPID. A C-->T transition within the alternate translation start site cosegregated with the XPID phenotype in this family; however, the same transition site was detected in a normal control male. We conclude that XPID maps to Xp11.23-Xq13.3 and that mutations of WASP are not associated with XPID.  (+info)

Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). (7/177)

Antibodies to glutamic acid decarboxylase (GAD) occur frequently in patients with APECED, although clinical insulin-dependent diabetes mellitus (IDDM) is seen only in a subgroup of the patients. We studied the cellular immunity to GAD, antibodies to GAD and their association with the HLA DQB1 risk alleles for IDDM in patients with APECED. Proliferation responses to GAD were enhanced in the patients with APECED when compared with the control subjects (P = 0.004), but autoimmunity to GAD was not associated with IDDM in APECED. The levels of interferon-gamma (IFN-gamma) secreted by GAD-stimulated T cells were higher in the patients than in control subjects (P = 0. 001). A negative correlation (r = - 0.436, P = 0.03) existed between the antibody levels and the stimulation indices (SIs) to GAD. In 14 non-diabetic patients no difference in insulin secretion was observed in intravenous glucose tolerance test (IVGTT) between the patients with and without T cell reactivity to GAD. We conclude that cellular immunity to GAD detected as T cell proliferation response to GAD or IFN-gamma secretion by GAD-stimulated T cells was frequent in patients with APECED (69%) and was not restricted to the patients with clinically detectable beta-cell damage.  (+info)

Inhibition of aromatic L-amino acid decarboxylase activity by human autoantibodies. (8/177)

A full-length rat cDNA clone encoding aromatic L-amino acid decarboxylase (AADC) (E.C. 4.1.1.28) was used for in vitro transcription and translation. The enzyme had catalytic activity (0. 2 pmol serotonin/microl lysate per min), and was stimulated 2.5-fold by the addition of excess pyridoxal phosphate. On size exclusion chromatography, AADC eluted as a single activity peak with an apparent mol. wt of 93 kD. This activity peak was immunoprecipitated by sera from patients with autoimmune polyendocrine syndrome type I (APS I) containing autoantibodies against AADC. Serum and purified IgG from these patients inhibited the enzyme activity (non-competitively) by 10-80%, while sera from APS I patients without autoantibodies and controls did not. This finding confirms and extends previous observations that APS I patients have inhibitory antibodies against key enzymes involved in neurotransmitter biosynthesis.  (+info)

Polyendocrinopathies, autoimmune refers to a group of disorders that involve malfunction of multiple endocrine glands, caused by the immune system mistakenly attacking and damaging these glands. The endocrine glands are responsible for producing hormones that regulate various functions in the body.

There are several types of autoimmune polyendocrinopathies, including:

1. Autoimmune Polyendocrine Syndrome Type 1 (APS-1): Also known as Autoimmune Polyglandular Syndrome Type 1 or APECED, this is a rare inherited disorder that typically affects multiple endocrine glands and other organs. It is caused by mutations in the autoimmune regulator (AIRE) gene.
2. Autoimmune Polyendocrine Syndrome Type 2 (APS-2): Also known as Schmidt's syndrome, this disorder typically involves the adrenal glands, thyroid gland, and/or insulin-producing cells in the pancreas. It is more common than APS-1 and often affects middle-aged women.
3. Autoimmune Polyendocrine Syndrome Type 3 (APS-3): This disorder involves the presence of autoimmune Addison's disease, with or without other autoimmune disorders such as thyroid disease, type 1 diabetes, or vitiligo.
4. Autoimmune Polyendocrine Syndrome Type 4 (APS-4): This is a catch-all category for individuals who have multiple autoimmune endocrine disorders that do not fit into the other types of APS.

Symptoms of autoimmune polyendocrinopathies can vary widely depending on which glands are affected and the severity of the damage. Treatment typically involves replacing the hormones that are no longer being produced in sufficient quantities, as well as managing any underlying immune system dysfunction.

Hair diseases is a broad term that refers to various medical conditions affecting the hair shaft, follicle, or scalp. These conditions can be categorized into several types, including:

1. Hair shaft abnormalities: These are conditions that affect the structure and growth of the hair shaft. Examples include trichorrhexis nodosa, where the hair becomes weak and breaks easily, and pili torti, where the hair shaft is twisted and appears sparse and fragile.
2. Hair follicle disorders: These are conditions that affect the hair follicles, leading to hair loss or abnormal growth patterns. Examples include alopecia areata, an autoimmune disorder that causes patchy hair loss, and androgenetic alopecia, a genetic condition that leads to pattern baldness in both men and women.
3. Scalp disorders: These are conditions that affect the scalp, leading to symptoms such as itching, redness, scaling, or pain. Examples include seborrheic dermatitis, psoriasis, and tinea capitis (ringworm of the scalp).
4. Hair cycle abnormalities: These are conditions that affect the normal growth cycle of the hair, leading to excessive shedding or thinning. Examples include telogen effluvium, where a large number of hairs enter the resting phase and fall out, and anagen effluvium, which is typically caused by chemotherapy or radiation therapy.
5. Infectious diseases: Hair follicles can become infected with various bacteria, viruses, or fungi, leading to conditions such as folliculitis, furunculosis, and kerion.
6. Genetic disorders: Some genetic disorders can affect the hair, such as Menkes syndrome, which is a rare inherited disorder that affects copper metabolism and leads to kinky, sparse, and brittle hair.

Proper diagnosis and treatment of hair diseases require consultation with a healthcare professional, often a dermatologist or a trichologist who specializes in hair and scalp disorders.

Osteochondrodysplasias are a group of genetic disorders that affect the development of bones and cartilage. These conditions can result in dwarfism or short stature, as well as other skeletal abnormalities. Osteochondrodysplasias can be caused by mutations in genes that regulate bone and cartilage growth, and they are often characterized by abnormalities in the shape, size, and/or structure of the bones and cartilage.

There are many different types of osteochondrodysplasias, each with its own specific symptoms and patterns of inheritance. Some common examples include achondroplasia, thanatophoric dysplasia, and spondyloepiphyseal dysplasia. These conditions can vary in severity, and some may be associated with other health problems, such as respiratory difficulties or neurological issues.

Treatment for osteochondrodysplasias typically focuses on managing the symptoms and addressing any related health concerns. This may involve physical therapy, bracing or surgery to correct skeletal abnormalities, and treatment for any associated medical conditions. In some cases, genetic counseling may also be recommended for individuals with osteochondrodysplasias and their families.

Severe Combined Immunodeficiency (SCID) is a group of rare genetic disorders characterized by deficient or absent immune responses. It results from mutations in different genes involved in the development and function of T lymphocytes, B lymphocytes, or both, leading to a severe impairment in cell-mediated and humoral immunity.

Infants with SCID are extremely vulnerable to infections, which can be life-threatening. Common symptoms include chronic diarrhea, failure to thrive, recurrent pneumonia, and persistent candidiasis (thrush). If left untreated, it can lead to severe disability or death within the first two years of life. Treatment typically involves bone marrow transplantation or gene therapy to restore immune function.

Cartilage diseases refer to conditions that affect the cartilaginous tissues in the body. Cartilage is a firm, flexible connective tissue found in many areas of the body, including the joints, ribcage, ears, and nose. It provides structure and support, allows for smooth movement between bones, and protects the ends of bones from friction.

There are several types of cartilage diseases, including:

1. Osteoarthritis (OA): This is a degenerative joint disease that occurs when the protective cartilage that cushions the ends of your bones wears down over time. It can cause pain, stiffness, and loss of mobility in the affected joints.
2. Rheumatoid arthritis (RA): This is an autoimmune disorder that causes inflammation in the lining of the joints, leading to cartilage damage and bone erosion.
3. Traumatic arthritis: This occurs when a joint is injured, causing damage to the cartilage and resulting in pain, stiffness, and loss of mobility.
4. Infectious arthritis: This occurs when a joint becomes infected, leading to inflammation and potential damage to the cartilage.
5. Chondromalacia patellae: This is a condition that affects the cartilage on the back of the kneecap, causing pain and stiffness in the knee.
6. Costochondritis: This is an inflammation of the cartilage in the ribcage, causing chest pain and discomfort.
7. Nasal septal deviation: This is a condition where the cartilage that separates the nostrils is crooked or off-center, causing difficulty breathing through the nose.
8. Osteochondritis dissecans (OCD): This is a joint condition that occurs when a piece of cartilage and bone in a joint becomes detached, causing pain and stiffness.
9. Synovial chondromatosis: This is a rare condition where nodules made up of cartilage form in the lining of a joint, causing pain, swelling, and limited mobility.

Treatment for cartilage diseases varies depending on the specific condition and severity, but may include medication, physical therapy, surgery, or a combination of these.

RAG-1 (Recombination Activating Gene 1) is a protein involved in the process of V(D)J recombination, which is a crucial step in the development of the immune system. Specifically, RAG-1 plays a role in generating diversity in the antigen receptors of T and B cells by rearranging gene segments that encode for the variable regions of these receptors.

RAG-1 forms a complex with another protein called RAG-2, and together they initiate the V(D)J recombination process by introducing DNA double-strand breaks at specific sites within the antigen receptor genes. This allows for the precise joining of different gene segments to create a functional antigen receptor that can recognize a wide variety of foreign molecules (antigens).

Mutations in the RAG-1 gene can lead to severe combined immunodeficiency (SCID), a condition characterized by an impaired immune system and increased susceptibility to infections.

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.

VDJ Recombinases are a set of enzymes that play a crucial role in the adaptive immune system, specifically in the diversification of antigen receptors in vertebrates. The name "VDJ" refers to the variable (V), diversity (D), and joining (J) gene segments that undergo recombination to generate a vast array of unique antigen receptor genes.

The VDJ Recombinases are composed of two main enzymatic components: RAG1 and RAG2, which are responsible for initiating the recombination process, and Artemis, which is involved in the cleavage and joining of the gene segments. The recombination process mediated by these enzymes occurs during the development of B and T lymphocytes, allowing for the generation of a diverse repertoire of antigen receptors that can recognize and respond to a wide range of pathogens.

The RAG1 and RAG2 proteins recognize specific DNA sequences called recombination signal sequences (RSSs) that flank the V, D, and J gene segments. They introduce double-stranded breaks at the junctions between these gene segments, creating a hairpin structure at one end of each break. The hairpins are then cleaved by Artemis, and the resulting overhangs are joined together by another set of enzymes to form a functional antigen receptor gene.

Overall, VDJ Recombinases play a critical role in the adaptive immune system's ability to generate diverse and specific responses to pathogens, making them an essential component of vertebrate immunity.

... autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 autoimmune diabetes mellitus defines autoimmune ... Polyendocrinopathies, Autoimmune / diagnosis* * Polyendocrinopathies, Autoimmune / epidemiology * Polyendocrinopathies, ... The combination of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 autoimmune diabetes mellitus ... Autoimmune polyglandular syndrome, type II Am Fam Physician. 2007 Mar 1;75(5):667-70. ...
polyendocrinopathies, autoimmune (1) Issue Section. Filter by issue-section. * Letters: Observations (1) ... Organospecific Lymph Node Enlargement in Autoimmune Polyglandular Syndrome Michael Hummel, MD, Peter Banholzer, MD, Wolfgang ... View article titled, Organospecific Lymph Node Enlargement in Autoimmune Polyglandular Syndrome Open the PDF for Organospecific ...
Mutations in the CD3+ T-cell complex are associated with autoimmune cytopenias, autoimmune enteropathy, and recurrent ... and polyendocrinopathies, especially insulin-dependent diabetes mellitus (IDDM). Depending on the specific mutation, severe ... A syndrome of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the AIRE gene ... The increased risk for reactive airway disease and thyroiditis in patients with DGS and the high incidence of autoimmune ...
Delayed Onset and Spontaneous Regression of DMBA/TPA-Induced Skin Lesions in Mice Lacking Autoimmune Regulator. Lesko, E. M., ...
Autoimmune polyendocrinopathies: hypoparathyroidism, adrenocortical failure, iddm, gonadal failure, hypothyroidism, pernicious ... autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addison& ... Variation registry for Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) Select database by name ...
Autoimmune neutropenia of infancy*Most common neutrophil defect of childhood; usually detected at ~6 to 12 months of age ... and has an association with polyendocrinopathies and ectodermal dysplasia. ... Symptoms seen at any age; typically sinopulmonary infections; increased risk of allergy, autoimmune disease, and reactions to ... Diarrhea associated with villous atrophy and a T-cell infiltrate, progressive autoimmune destruction of endocrine organs ...
Polyendocrinopathies, Autoimmune. *Purpura, Thrombocytopenic, Idiopathic. *Thyroiditis, Autoimmune. *Undifferentiated ... for the distinction of autoimmune hepatitis and primary biliary cirrhosis and their staining pattern in autoimmune hepatitis- ... "Hepatitis, Autoimmune" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... This graph shows the total number of publications written about "Hepatitis, Autoimmune" by people in this website by year, and ...
Polyendocrinopathies, Autoimmune - Puberty, Delayed - Puberty, Precocious - Renal Osteodystrophy - Thyroid Diseases - Thyroid ... Hormone Resistance Syndrome - Thyroid Neoplasms - Thyroid Nodule - Thyroiditis - Thyroiditis, Autoimmune - Thyroiditis, ...
Polyendocrinopathies, Autoimmune * Radiation Chimera * Reverse Transcriptase Polymerase Chain Reaction * Self Tolerance * ... autoimmune regulator) develop multiorgan autoimmune disease. We used aire- deficient mice to test the hypothesis that this ... The mutant animals exhibited a defined profile of autoimmune diseases that depended on the absence of aire in stromal cells of ... Besides the classical triad, a dozen autoimmune endocrine and other components occurred variably, several of them dangerous. ...
Polyendocrinopathies, Autoimmune:blood, Stiff-Person Syndrome:blood,. : A 26-year-old Japanese woman presented with adrenal ... A case of autoimmune polyendocrine syndrome type I with strong positive GAD antibody titer, followed up with glucose tolerance ... Murakami R, Kawai T, Meguro S, Hayashi M, Itoh H. A case of autoimmune polyendocrine syndrome type I with strong positive GAD ... A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I ...
Polyendocrinopathies, Autoimmune:blood, Stiff-Person Syndrome:blood,. Citation ... A case of autoimmune polyendocrine syndrome type I with strong positive GAD antibody titer, followed up with glucose tolerance ... Murakami R, Kawai T, Meguro S, Hayashi M, Itoh H. A case of autoimmune polyendocrine syndrome type I with strong positive GAD ...
... anti heart antibodies in sera from patients with idiopathic dilated cardiomyopathy and autoimmune polyendocrinopathies. ... Novel nucleolar antigens in autoimmune disease. Journal of Rheumatology. Suppl 14(Suppl 13): 70-77 ...
Polyendocrinopathies, Autoimmune [C19.787] Polyendocrinopathies, Autoimmune * Thyroid Diseases [C19.874] Thyroid Diseases * ...
Polyendocrinopathies, Autoimmune [C19.787] * Thyroid Diseases [C19.874] * Tuberculosis, Endocrine [C19.927] Expand All Collapse ...
Polyendocrinopathies, Autoimmune. *Purpura, Thrombocytopenic, Idiopathic. *Thyroiditis, Autoimmune. *Hepatitis, Chronic. * ... "Hepatitis, Autoimmune" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... This graph shows the total number of publications written about "Hepatitis, Autoimmune" by people in this website by year, and ... Klapko O, Ghoulam E, Jakate S, Eswaran S, Usha L. Anastrozole-induced Autoimmune Hepatitis: A Rare Complication of Breast ...
"Autoimmune Diseases" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies. J Clin Invest. 2018 12 03; 128(12):5368 ... This graph shows the total number of publications written about "Autoimmune Diseases" by people in this website by year, and ... Factors associated with reduced infliximab exposure in the treatment of pediatric autoimmune disorders: a cross-sectional ...
Polyendocrinopathies, Autoimmune. *Thyroid Diseases. *Tuberculosis, Endocrine. *Tuberculosis. *Latent Tuberculosis. * ...
Polyendocrinopathies, Autoimmune. *Purpura, Thrombocytopenic, Idiopathic. *Thyroiditis, Autoimmune. *Diabetes Mellitus. * ...
Polyendocrinopathies, Autoimmune. *Thyroid Diseases. *Tuberculosis, Endocrine. *Hypothalamic Diseases. *Bardet-Biedl Syndrome. ... Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance. Thyroid. 2004 Apr; 14(4): ...
... autoimmune - diagnosis ; Polyendocrinopathies, autoimmune - etiology ; Polyendocrinopathies, autoimmune - drug therapy ; ... Polyendocrinopathies, autoimmune - blood ; Candidiasis - diagnosis ; Candidiasis - etiology ; Candidiasis - drug therapy ; ... Tytu angielski: Cutaneous manifestations of autoimmune polyglandular syndrome type 1 - case report and literature review.. ...
Polyendocrinopathies, Autoimmune - 3 Studies. *Polyhydramnios - 3 Studies. *Polymicrogyria - 3 Studies. *Polymorphic ...
Polyendocrinopathies, Autoimmune. *Purpura, Thrombocytopenic, Idiopathic. *Thyroiditis, Autoimmune. *Undifferentiated ... Immunoglobulin and Complement Immunohistochemistry on Paraffin Sections in Autoimmune Bullous Diseases: A Systematic Review and ...
Polyendocrinopathies, Autoimmune. *Purpura, Thrombocytopenic, Idiopathic. *Thyroiditis, Autoimmune. *Undifferentiated ...
Polyendocrinopathies, Autoimmune , Noncommunicable Diseases , Chronic Disease Indicators ...
Humans , Child , Adolescent , Autoimmune Diseases , Polyendocrinopathies, Autoimmune/diagnosis , Diabetes Mellitus, Type 1/ ... characterized by autoimmune disease of the thyroid associated with other autoimmune conditions. Methods: Case report; four ... Type 1A Diabetes Mellitus (1ADM) is a metabolic disorder secondary to autoimmune destruction of pancreatic beta cells and ... Myasthenia gravis (MG) is an autoimmune disease caused by postsynaptic blockade of the myoneural plate by AAbs against ...
  • A syndrome of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the AIRE gene coding for autoimmune regulator. (medscape.com)
  • One form is also called autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) and has an association with polyendocrinopathies and ectodermal dysplasia. (unboundmedicine.com)
  • title=Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. (transhumanist.ru)
  • Moreira RK, Lee H, Stapp R, Ormsby A, Shah V. Immunohistochemical staining of inflammatory cells in liver biopsy specimens of patients with autoimmune hepatitis, primary biliary cirrhosis, and overlap syndromes. (umassmed.edu)
  • APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addisonís disease, hypoparathyroidism, and type 1 diabetes. (lu.se)
  • Autoimmune Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • Below are the most recent publications written about "Autoimmune Diseases" by people in Profiles. (childrensmercy.org)
  • Novel insights into systemic autoimmune rheumatic diseases using shared molecular signatures and an integrative analysis. (childrensmercy.org)
  • Immunoglobulin and Complement Immunohistochemistry on Paraffin Sections in Autoimmune Bullous Diseases: A Systematic Review and Meta-analysis. (uchicago.edu)
  • Defects in CD95/Fas and Fas ligand lead to autoimmune cytopenias, lymphadenopathy, and hepatosplenomegaly. (medscape.com)
  • A few years later, she presented with hypoparathyroidism and was diagnosed with autoimmune polyendocrine syndrome type I (APS I), and treatment with calcium and alfacalcidol was started. (nel.edu)
  • Mutations in the CD3 + T-cell complex are associated with autoimmune cytopenias, autoimmune enteropathy, and recurrent sinopulmonary infections. (medscape.com)
  • A utoimmune p olyendocrinopathy c andidiasis- e ctodermal d ystrophy (APECED), also known as a utoimmune p olyglandular s yndrome type 1 (APS-1), is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. (lu.se)
  • The combination of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 autoimmune diabetes mellitus defines autoimmune polyglandular syndrome, type II. (nih.gov)
  • The usefulness of IgG and IgM immunostaining of periportal inflammatory cells (plasma cells and lymphocytes) for the distinction of autoimmune hepatitis and primary biliary cirrhosis and their staining pattern in autoimmune hepatitis-primary biliary cirrhosis overlap syndrome. (umassmed.edu)
  • A case of autoimmune polyendocrine syndrome type I with strong positive GAD antibody titer, followed up with glucose tolerance measured by oral glucose tolerance test. (nel.edu)
  • Murakami R, Kawai T, Meguro S, Hayashi M, Itoh H. A case of autoimmune polyendocrine syndrome type I with strong positive GAD antibody titer, followed up with glucose tolerance measured by oral glucose tolerance test. (nel.edu)
  • Thus, T-cell to B-cell communication is defective, with partial defects in antibody production and increased incidence of atopy and autoimmune disorders. (medscape.com)
  • Evaluar las tendencias y asociaciones relacionadas con la cobertura y hospitalizaciones por condiciones sensibles a la atención primaria de salud en la ciudad de Fortaleza/Ceará/Brasil de 2015 a 2021. (bvsalud.org)
  • these disorders often include immune dysregulation that allows autoimmune phenomena, lymphoproliferation, and malignancies. (medscape.com)
  • Funk RS, Shakhnovich V, Cho YK, Polireddy K, Jausurawong T, Gress K, Becker ML. Factors associated with reduced infliximab exposure in the treatment of pediatric autoimmune disorders: a cross-sectional prospective convenience sampling study. (childrensmercy.org)
  • Infections can be severe, but the autoimmune manifestations predominate. (unboundmedicine.com)
  • Long-term minocycline use for acne in healthy adolescents can cause severe autoimmune hepatitis. (umassmed.edu)
  • The increased risk for reactive airway disease and thyroiditis in patients with DGS and the high incidence of autoimmune hemolytic anemia in patients with WAS are examples of defective T-cell/B-cell interactions that result in self-reactivity. (medscape.com)
  • Klapko O, Ghoulam E, Jakate S, Eswaran S, Usha L. Anastrozole-induced Autoimmune Hepatitis: A Rare Complication of Breast Cancer Therapy. (rush.edu)
  • Resolution of cirrhosis in autoimmune hepatitis with corticosteroid therapy. (rush.edu)
  • Ces vingt dernières années, on assiste à une augmentation spectaculaire du nombre de cas de diabète de type 1 avec une mortalité plus élevée en Afrique Noire en lien avec les difficultés d'accès aux soins, à la rupture de suivi engendrant un nombre élevé de perdus de vue. (bvsalud.org)
  • This graph shows the total number of publications written about "Hepatitis, Autoimmune" by people in this website by year, and whether "Hepatitis, Autoimmune" was a major or minor topic of these publications. (umassmed.edu)
  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy ( APECED ) is a rare life-threatening autoimmune disease that attacks multiple organs and has its onset in childhood. (nih.gov)
  • 15. Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). (nih.gov)
  • 19. Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). (nih.gov)
  • A syndrome of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the AIRE gene coding for autoimmune regulator. (medscape.com)
  • We have recently cloned the murine autoimmune regulator (Aire) gene, the homologue of human AIRE responsible for the autoimmune polyglandular syndrome type 1 (APS1) or autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). (elsevierpure.com)
  • APECED, an autosomal recessive disease manifests itself as a widely variable combination of three groups of components: 1) autoimmune destruction of tissues, predominantly endocrine glands, 2) chronic superficial candidiasis, and 3) ectodermal dystrophy. (nih.gov)
  • 6. Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies. (nih.gov)
  • Alkaabi, JM , Chik, CL & Lewanczuk, RZ 2008, ' Pericarditis with cardiac tamponade and addisonian crisis as the presenting features of autoimmune polyglandular syndrome type II: A case series ', Endocrine Practice , vol. 14, no. 4, pp. 474-478. (uaeu.ac.ae)
  • Autoimmune polyglandular syndrome type 2 manifested as Hashimoto's thyroiditis and adrenocortical insufficiency, in Turner syndrome woman, with onset following introduction of treatment with recombinant human growth hormone. (nel.edu)
  • The increased risk for reactive airway disease and thyroiditis in patients with DGS and the high incidence of autoimmune hemolytic anemia in patients with WAS are examples of defective T-cell/B-cell interactions that result in self-reactivity. (medscape.com)
  • Thus, T-cell to B-cell communication is defective, with partial defects in antibody production and increased incidence of atopy and autoimmune disorders. (medscape.com)
  • Autoimmune polyglandular syndrome is a constellation of signs and symptoms of simultaneous insufficiencies of several endocrine glands. (nel.edu)
  • 3. The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. (nih.gov)
  • 14. Regulation of human autoimmune regulator (AIRE) gene translation by miR-220b. (nih.gov)
  • Mutations in the CD3 + T-cell complex are associated with autoimmune cytopenias, autoimmune enteropathy, and recurrent sinopulmonary infections. (medscape.com)
  • abstract = "Objective: To present 3 cases of cardiac tamponade and addisonian crisis as the presenting features of autoimmune polyglandular syndrome (APS) type II. (uaeu.ac.ae)
  • Immune deficiencies are caused by loss-of-function changes to the T-cell component, whereas the coincident autoimmune symptoms are the consequence of gain-of-function changes or loss of regulatory functions. (medscape.com)
  • 18. The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation. (nih.gov)