ALLMedicine™ Autoimmune Polyglandular Syndrome Type 1 Center

Jan 20th, 2021 - Pure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1). Here, we report a case of APS1 with PRCA and LGLL. Previous cases were reviewed, and possi...

Jan 8th, 2021 - Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disease. In patients with APS-1, the most frequently reported ocular manifestations are keratoconjunctivitis with dry eye and retinal degeneration. However, to our know...

Nov 28th, 2020 - Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort o...

Oct 17th, 2020 - BACKGROUND Autoimmune polyglandular syndrome type 1 (APS-1) is an extremely rare autoimmune disorder with an autosomal recessive inheritance pattern. Its manifestations present in chronological sequence of the components mucocutaneous candidiasis,...

Aug 8th, 2020 - Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive genetic disease due to mutations in the AIRE (AutoImmune REgulator) gene. The clinical diagno...

Jan 20th, 2021 - Pure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1). Here, we report a case of APS1 with PRCA and LGLL. Previous cases were reviewed, and possi...

Jan 8th, 2021 - Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disease. In patients with APS-1, the most frequently reported ocular manifestations are keratoconjunctivitis with dry eye and retinal degeneration. However, to our know...

Nov 28th, 2020 - Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort o...

Oct 17th, 2020 - BACKGROUND Autoimmune polyglandular syndrome type 1 (APS-1) is an extremely rare autoimmune disorder with an autosomal recessive inheritance pattern. Its manifestations present in chronological sequence of the components mucocutaneous candidiasis,...

Aug 8th, 2020 - Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive genetic disease due to mutations in the AIRE (AutoImmune REgulator) gene. The clinical diagno...

Jul 30th, 2019 - A group of scientists from leading institutions is questioning the findings of a prominent immunology article linked to a strategic drug development partnership potentially worth up to €164 million ($183 million). The original article, published i...

Oct 1st, 2016 - The deadline has been extended to October 21 to submit letters of intent and abstracts for National Organization for Rare Disorders (NORD) research grants for studies related to the following rare diseases: Alveolar capillary dysplasia with misali.

Sep 1st, 2016 - NORD has announced its 2016 requests for proposals for research studies related to the following rare diseases: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) Appendix cancer and pseudomyxoma peritonei (PMP) Autoim.

Jul 6th, 2015 - The National Organization for Rare Disorders (NORD) has posted requests for proposals (RFPs) for grants to support research on several rare diseases. July 31, 2015, will be the deadline to submit abstracts and letters of intent.