The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers. | LitMetric
Division of Endocrinology, Department of Medicine, Universidade Federal de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.
Published: December 2018
AI Article Synopsis
Article Abstract
Autoimmune polyendocrine syndrome type 1 (APS1) is characterized by multiorgan autoimmunity. We aim at characterizing a multi-center Brazilian cohort of APS1 patients by clinical evaluation, searching mutation in the AIRE gene, measuring serum autoantibodies, and investigating correlations between findings. We recruited patients based on the clinical criteria and tested them for AIRE mutations, antibodies against interferon type I and interleukins 17A, 17F and 22. We identified 12 unrelated families (13 patients) with typical signs of APS1 in the proband, and the screening of relatives recognized an asymptomatic child. Candidiasis was present in all cases, and 19 other manifestations were observed. All patients carried one of 10 different mutations in AIRE, being 3 new ones, and were positive for anti-interferon type I serum antibody. Anti-interleukin-17A levels inversely correlated with the number of manifestations in each patient. This negative correlation may suggest a protective effect of anti-interleukin-17A with a potential therapeutic application.
APECED is a rare genetic syndrome characterized by autoimmune issues that can affect multiple systems, including the lungs, and is particularly prevalent in the Sardinian population.
A 49-year-old Sardinian woman with APECED presented to a bronchiectasis clinic with chronic respiratory issues, and her CT scan revealed significant bronchiectasis along with infections from P. aeruginosa, MRSA, and M. intracellulare.
This case marks the first known lung involvement in a Sardinian APECED patient, highlighting the need for increased awareness and earlier screening for pulmonary complications in similar patients.
* A study on a 16-year-old female patient with APS3A/B used whole-exome sequencing to uncover two genetic variants in the TIM-3 protein that may affect her autoimmune response and overall health.
* Additional analyses revealed that, despite similar TIM-3 fluorescence levels to healthy donors, the patient exhibited decreased TIM-3 expression, and unique mutations were found in her compared to a cohort of APS patients, highlighting the potential for new genetic insights in APS classification.
Primary adrenal insufficiency (PAI) is a rare but serious condition caused by low adrenal hormones, often difficult to diagnose due to non-specific symptoms.
In adults, autoimmunity is the leading cause of PAI, while in children, congenital issues like congenital adrenal hyperplasia (CAH) are more common, though autoimmune cases are also emerging.
This review aims to consolidate current knowledge on the causes, symptoms, and treatment of autoimmune PAI in kids to help doctors recognize early warning signs.
This case report highlights dilated cardiomyopathy as a serious heart complication in autoimmune polyendocrine syndrome type 1 (APS-1), stressing the importance of early detection and teamwork among healthcare providers.
APS-1, a rare genetic disorder caused by mutations in the AIRE gene, typically presents with symptoms like mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism.
The reported case involves a 28-year-old male with multiple symptoms confirming APS-1, indicating the necessity for comprehensive care and regular follow-up to enhance patient outcomes.
Department of Neurology and Translational Research Center (TRACE), Rigshospitalet, Nordstjernevej 42, DK-2600 Glostrup, Denmark; Department of Biochemistry and Molecular Biology, University of Southern Denmark, DK-5230 Odense, Denmark. Electronic address:
Autoimmune diseases constitute a broad, heterogenous group with many diverse and often overlapping symptoms. Even so, they are traditionally classified as either systemic, rheumatic diseases or organ-directed diseases. Several theories exist about autoimmune diseases, including defective self-recognition, altered self, molecular mimicry, bystander activation and epitope spreading.
