research Novel and Recurrent Mutations in the AIRE Gene of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) Patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
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research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research An Extract of Leontopodium Alpinum Prolongs Anagen Phase in Human Hair Follicles Ex Vivo
Leontopodium alpinum extract may help reduce hair shedding by keeping hair in the growth phase longer.
research Thyroid Diseases and Skin Autoimmunity
Thyroid diseases may contribute to autoimmune skin diseases, and more research is needed on their relationship.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research The L412F Variant of Toll-Like Receptor 3 Is Associated with Cutaneous Candidiasis, Increased Susceptibility to Cytomegalovirus, and Autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Lymphocytes, Neuropeptides, And Genes Involved In Alopecia Areata
Alopecia areata is an autoimmune disease where T cells attack hair follicles.
research Hair Follicle Immune Privilege and Its Collapse in Alopecia Areata
Hair follicles are normally protected from the immune system, but when this protection fails, it can cause hair loss in alopecia areata.
research Transcriptional Regulation of the Thymus Master Regulator Foxn1
Foxn1 gene regulation is crucial for thymus development but not for hair growth.
research The Autoimmune Regulator (AIRE), Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients With APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Alopecia Areata: A Review on Diagnosis, Immunological Etiopathogenesis, and Treatment Options
The document concludes that while there are various treatments for Alopecia Areata, there is no cure, and individualized treatment plans are essential due to varying effectiveness.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Biological Significance of FoxN1 Gain-of-Function Mutations During T and B Lymphopoiesis in Juvenile Mice
FoxN1 overexpression in young mice harms immune cell and skin development.
research AIRE Deficiency Leads to the Development of Alopecia Areata-Like Lesions in Mice
AIRE deficiency causes hair loss similar to alopecia areata in mice.
research Alopecia Areata: Pathogenesis, Genetic Factors, and Treatments Using Mouse Models
The document concludes that ongoing research using animal models is crucial for better understanding and treating Alopecia Areata.
research Clinical Case of Alopecia Totalis in Pediatric Practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research Alopecia Areata: A Review of Disease Pathogenesis
Alopecia areata is likely an autoimmune disease with unclear triggers, involving various immune cells and molecules, and currently has no cure.
research Skin Keratins
Keratins are important for skin cell health and their problems can cause diseases.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.