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.
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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 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 Rapid Full Engraftment and Successful Immune Reconstitution After Allogeneic Hematopoietic Stem Cell Transplantation With Reduced Intensity Conditioning in Omenn Syndrome
A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
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.
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 Alopecia Areata Patients Show Deficiency of FOXP3+CD39+ T Regulatory Cells and Clonotypic Restriction of Treg TCRβ-Chain, Highlighting the Immunopathological Aspect of the Disease
Patients with Alopecia areata have fewer specific immune cells that normally regulate the immune system, which may contribute to the condition.
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 Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
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 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 Dermatologic Manifestations of Endocrine Disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
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 FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
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 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 Fatal Autoimmunity Results from the Conditional Deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Alopecia Areata: A Comprehensive Review of Pathogenesis and Management
New treatments for Alopecia Areata show promise but need to be more effective and affordable.
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 DKK1 Mediated Inhibition of Wnt Signaling in Postnatal Mice Leads to Loss of TEC Progenitors and Thymic Degeneration
Blocking Wnt signaling in young mice causes thymus shrinkage and cell loss, but recovery is possible when the block is removed.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Morphogenesis and Maintenance of the 3D Thymic Medulla and Prevention of Nude Skin Phenotype Require FoxN1 in Pre- and Post-Natal K14 Epithelium
FoxN1 gene is essential for proper thymus structure and preventing hair loss.
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 Mechanisms of Tolerance and Potential Therapeutic Interventions in Alopecia Areata
Targeting immune tolerance issues in Alopecia Areata could restore hair growth and maintain remission.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Vitiligo: A Comprehensive Overview
Vitiligo is a skin condition causing white spots, more common in women, often starts before age 20, and can affect mental health.
research Alopecia Areata: A Tissue-Specific Autoimmune Disease of the Hair Follicle
Alopecia areata is an autoimmune condition causing hair loss due to the immune system attacking hair follicles, often influenced by genetics and stress.
research Hair Follicle Immune Privilege Revisited: The Key to Alopecia Areata Management
Restoring hair bulb immune privilege is crucial for managing alopecia areata.