26 citations,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
2 citations,
December 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
8 citations,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
6 citations,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
24 citations,
January 2008 in “KARGER eBooks” The document concludes that ongoing research using animal models is crucial for better understanding and treating Alopecia Areata.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
21 citations,
November 2010 in “Journal of molecular medicine” FoxN1 gene is essential for proper thymus structure and preventing hair loss.
86 citations,
October 2017 in “Translational pediatrics” Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
11 citations,
July 2012 in “Current Opinion in Pediatrics” Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
2 citations,
July 2014 in “Irish Journal of Medical Science” The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
191 citations,
May 2018 in “British journal of dermatology/British journal of dermatology, Supplement” Alopecia areata is likely an autoimmune disease with unclear triggers, involving various immune cells and molecules, and currently has no cure.
9 citations,
January 2015 in “Current problems in dermatology” Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
24 citations,
March 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
2 citations,
October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” AIRE deficiency causes hair loss similar to alopecia areata in mice.
April 2003 in “Experimental Dermatology” The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
134 citations,
July 2020 in “Experimental dermatology” Hair follicles are normally protected from the immune system, but when this protection fails, it can cause hair loss in alopecia areata.
2 citations,
December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
October 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Mice treatments didn't grow hair, a patient treatment may affect immune response, and people with hair loss often feel anxious or depressed.
2 citations,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
148 citations,
December 2018 in “Journal of autoimmunity” Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.
1 citations,
July 2014 in “International Journal of Dermatology” A cancer patient developed a type of hair loss after starting a cancer drug called vandetanib.