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| http://dx.doi.org/10.1007/s10875-022-01245-1 | DOI Listing |
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Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report.
BMC Pulm Med
October 2024
Respiratory Unit, IRCCS Humanitas Research Hospital, Rozzano, Italy.
Article Synopsis
- 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.
Uncovering ASO-Targetable Deep Intronic Variants: Insights and Therapeutic Implications.
DNA Cell Biol
October 2024
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.
High-throughput DNA sequencing has accelerated the discovery of disease-causing genetic variants, yet only in 10-40% of cases yield a genetic diagnosis. Increased implementation of genome sequencing has enabled a deeper exploration of the noncoding genome and recognition of noncoding variants as major contributors to disease. In a recent study, we identified a deep intronic variant in the AutoImmune REgulator () gene (c.
View Article and Find Full Text PDFTrio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
PLoS One
October 2024
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.
Article Synopsis
- * Genetic analysis using trio-based exome sequencing found benign variants of the AIRE gene in all participants, which helped differentiate AAI and exclude APS type 1.
- * The study recommends whole genome analysis in future research to discover genetic predictors of autoimmune diseases, after identifying risk alleles in patients and noting the prevalence of specific haplotypes in healthy individuals.
Article Synopsis
- 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.
Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.
J Clin Immunol
June 2024
Children's Hospital and Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare genetic disease linked to mutations in the autoimmune regulator gene, affecting mainly endocrine organs but also showing autoantibody reactivity to brain structures.
- In a study of 44 Finnish patients with APS-1, 23% were diagnosed with neurological disorders, with migraines, CNS infections, and epilepsy being the most common conditions.
- Serum antineuronal antibodies were found in 42% of 24 tested patients, with GAD65 antibodies being prevalent, indicating a possible connection between APS-1 and neurological issues that require more research.
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