autoimmune polyendocrinopathy
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2022 ◽  
Vol 8 (12) ◽  
pp. 430-432
Author(s):  
Chirantap Oza ◽  
Madhura Karguppikar ◽  
Vaman Khadilkar ◽  
Anuradha Khadilkar

Autoimmune polyglandular syndrome-1 (APS-1)also known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy is a rare autosomal recessive disorder caused by mutation of AIRE gene on chromosome 21q22.3 with an overall prevalence of <1:100,000. Here, we present a 16-year-old male having clinical history of evolution of symptoms for oral candidiasis, hypoparathyroidism, and adrenal insufficiency (AI). He developed rare endocrine and non-endocrine manifestations such as type-1 diabetes (T1D) and autoimmune hepatitis, respectively. The patient while on hormone replacement therapy along with immunosuppressants developed liver cirrhosis and portal hypertension with esophageal varices and candidiasis. Subsequently, he was admitted for complaints of cough, cold and fever and was confirmed to be affected by SARS-CoV-2 by reverse transcription-polymerase chain reaction method. In his prolonged ICU stay of 26 days, he required oxygen therapy, intravenous glucocorticoids, remdesivir, low molecular weight heparin, and hemodynamic support with inotropes. His medical management with subcutaneous insulin therapy and azathioprine was continued. He was discharged after complete resolution of symptoms and negative tests for SARS-CoV-2 and was advised radiological and clinical follow-up. Reports suggest that risk of severe COVID does not increase in patients with AI or autoimmunity. However, our patient possibly developed severe COVID not only due to AI and autoimmunity but also associated rare manifestations like hyperglycemia due to T1D and cirrhosis. Thus, good glycemic control and well-tolerated modern immunosuppressant therapy may be useful in improving prognosis of severe COVID-19 illness in patients with APS-1.


2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Aria Setoodeh ◽  
Samareh Panjeh-Shahi ◽  
Fariba Bahmani ◽  
Fatemeh Vand-Rajabpour ◽  
Nazanin Jalilian ◽  
...  

Abstract Objective Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disorder is estimated at 1/90,000–200,000 worldwide and 1/6500–9000 in genetically isolated populations such as Iran. Here, we investigated AIRE gene mutations in eight independent Iranian non-Jewish families. Methods We sequenced the coding regions of the AIRE gene and documented mutations which were further confirmed in respective parents. Results In total, 11 cases from 8 independent families were recruited. Mucosal candidiasis, Addison’s disease and hypoparathyroidism were the most common clinical manifestations in these patients. One novel homozygous splice acceptor mutation (c.308-1G>C), and one novel heterozygous stop-gain mutation (c.1496delC) combined with a known heterozygous c.232T>C missense mutation were found. Moreover, we observed previously described splice donor (c.1095+2T>A), frameshift (c.967-979del), stop-gain (c.415C>T), and missense (c.62C>T) mutations among the patients. All results were co-segregated in parents. Conclusion Here, we reported two novel mutations in the AIRE gene leading to APECED. Our data could provide insight into the phenotypic and genotypic spectrum of APECED in the non-Jewish Iranian population. These findings, in addition to future functional assays, can elucidate disease-causing mechanisms related to the AIRE gene and assist in genetic counseling and diagnosis.


2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Saila Laakso ◽  
Henna Kaijansinkko ◽  
Anne Räisänen-Sokolowski ◽  
Timo Jahnukainen ◽  
Janne Kataja ◽  
...  

JPGN Reports ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. e131
Author(s):  
Monica M. Schmitt ◽  
Elise M. N. Ferré ◽  
Michelly Sampaio De Melo ◽  
Megan A. Cooper ◽  
Martha M. Quezado ◽  
...  

2021 ◽  
Vol 9 ◽  
Author(s):  
Elise M. N. Ferré ◽  
Monica M. Schmitt ◽  
Michail S. Lionakis

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease caused by loss-of-function mutations in the autoimmune regulator (AIRE) gene. AIRE deficiency impairs immune tolerance in the thymus and results in the peripheral escape of self-reactive T lymphocytes and the generation of several cytokine- and tissue antigen-targeted autoantibodies. APECED features a classic triad of characteristic clinical manifestations consisting of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenal insufficiency (Addison's disease). In addition, APECED patients develop several non-endocrine autoimmune manifestations with variable frequencies, whose recognition by pediatricians should facilitate an earlier diagnosis and allow for the prompt implementation of targeted screening, preventive, and therapeutic strategies. This review summarizes our current understanding of the genetic, immunological, clinical, diagnostic, and treatment features of APECED.


2021 ◽  
pp. 1-3
Author(s):  
Benfaddoul O ◽  
◽  
Zouita B ◽  
El azzouzi B ◽  
Basraoui N ◽  
...  

Autoimmune polyendocrinopathy ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS I), is an uncommon, but debilitating autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE), It is characterized by a broad and diverse clinical spectrum which can lead to severe metabolic alterations and eventually life-threatening events. Hypoparathyroidism is one of the major criteria for clinical diagnosis, in addition to chronic mucocutaneous candidiasis and autoimmune adrenal insufficiency. This component is responsible for the forming of brain calcifications which tend to have a characteristic predilection for the basal ganglia. In this article, we report an additional case to the literature and provide a literature review of the expanding radiological spectrum of this syndrome


2021 ◽  
Vol 68 (2) ◽  
pp. 144-149
Author(s):  
Miguel García-Domínguez ◽  
Hirad Felipe Pérez-Ávila ◽  
César Mauricio Rojas-Maruri ◽  
Ximena León-Lara ◽  
Eduardo Llausás-Magaña ◽  
...  

Introducción: La candidiasis mucocutánea crónica asociada a autoinmunidad y displasia ectodérmica es un error innato de la inmunidad, caracterizado por una triada clásica (candidiasis mucocutánea crónica, hipoparatiroidismo e insuficiencia suprarrenal) debido a la presencia de autoanticuerpos contra diferentes órganos endocrinos y no endocrinos; predomina en judíos y finlandeses. Reporte de caso: Mujer de 7 años de edad de ascendencia europea y consanguinidad positiva, con historia personal de infecciones respiratorias de repetición, candidiasis crónica, colitis pseudomembranosa y pancitopenia. Los hallazgos clínicos hicieron sospechar de un error innato de la inmunidad y el diagnóstico preciso de APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) se realizó al detectar una variante patogénica en el gen AIRE, a través de tecnologías de secuenciación de nueva generación. Conclusión: Hoy en día, se tiene acceso a nuevas herramientas genéticas para establecer el diagnóstico temprano de los diferentes errores innatos de la inmunidad, así se puede ofrecer un tratamiento oportuno y un mejor pronóstico.


Author(s):  
Mercè Fernández Miró ◽  
Cristina Colom Comí ◽  
Rita Godoy Lorenzo

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