research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
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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 Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
Using old drugs for new uses can help treat rare immune deficiencies.
research Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Cutaneous Signals of Immune System Disease
Skin issues can indicate immune system problems.
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 Alopecia Areata in a Patient with Candidiasis-Endocrinopathy Syndrome: Unsuccessful Treatment Trial with Diphenylcyclopropenone
The treatment for alopecia areata with diphenylcyclopropenone was unsuccessful.
research The Clinical Spectrum of Parathyroid Disease
The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research What’s Sex Got to Do With COVID-19? Gender-Based Differences in the Host Immune Response to Coronaviruses
Men generally have more severe COVID-19 cases and higher death rates than women due to biological differences.
research Dermatotrichologist and Acquired Immunodeficiency Syndrome
Hair changes are common in AIDS patients and can add to their financial and emotional stress.
research Testosterone Target Therapy: Focus on Immune Response, Controversies, and Clinical Implications in Patients with COVID-19 Infection
Testosterone may have a dual role in COVID-19, potentially worsening outcomes in men, and testosterone therapy could help some patients, but more research is needed.
research Exploring the Drug Repurposing Versatility of Valproic Acid as a Multifunctional Regulator of Innate and Adaptive Immune Cells
Valproic Acid could potentially be used to treat immune-related conditions due to its ability to modify immune cell functions.
research Experimental Induction of Alopecia Areata-Like Hair Loss in C3H/HeJ Mice Using Full-Thickness Skin Grafts
Skin grafts on mice can cause an immune response leading to hair loss, useful for studying human hair loss conditions.
research Tissue Resident and Follicular Treg Cell Differentiation Is Regulated by CRAC Channels
CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
research PI3K-Akt-mTOR and Associated Signaling Pathways as Molecular Drivers of Immune-Mediated Inflammatory Skin Diseases: Update on Therapeutic Strategy Using Natural and Synthetic Compounds
Certain natural and synthetic compounds may help treat inflammatory skin diseases by targeting a specific signaling pathway.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Updates in the Pathogenesis of Alopecia Areata
Alopecia areata is an autoimmune condition causing hair loss, linked to genetic factors and immune system issues, with no cure yet.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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 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 Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Systemic Antifungals: Overview, Applications, and Costs
Terbinafine is the most effective medicine for fungal nail infections, especially for diabetics and those with weak immune systems.
research Non-Infective Mucocutaneous Presentations of Human Immunodeficiency Virus Infection
Most HIV patients develop skin symptoms that can indicate the stage of their disease.
research Frontiers in Alopecia Areata Pathobiology Research
The review suggests that other immune cells besides CD8+ T cells may contribute to alopecia areata and that targeting regulatory cell defects could improve treatment.
research Wound Healing and Skin Regeneration
Hair growth phase and certain genes can speed up wound healing, while an inflammatory mediator can slow down new hair growth after a wound. Understanding these factors can improve tissue regeneration during wound healing.
research Folliculitis Decalvans: A Rare Inflammatory Scalp Disorder
Folliculitis decalvans is a rare scalp condition causing scarring hair loss, treated with long-term antibiotics and other medications, but it often comes back and is hard to manage.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.