Autoimmune polyglandular syndrome type 1 and the autoimmune regulator

2004 ◽  
Vol 24 (1) ◽  
pp. 305-317 ◽  
Author(s):  
Qing-Guo Ruan ◽  
Jin-Xiong She
Keyword(s):  
Syndrome Type ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1

2008 ◽  
Vol 159 (5) ◽  
pp. 633-639 ◽  
Author(s):  
Katarina Trebušak Podkrajšek ◽  
Tatjana Milenković ◽  
Roelof J Odink ◽  
Hedi L Claasen-van der Grinten ◽  
Nina Bratanič ◽  
...  
Keyword(s):  
Mutation Detection ◽  
Gene Mutations ◽  
Chronic Otitis Media ◽  
Silent Mutation ◽  
Atypical Presentation ◽  
Syndrome Type ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

ObjectiveAutoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.DesignAIRE mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation.MethodsSequencing and TaqMan genotyping were used to identify AIRE mutations. Complete AIRE deletion was confirmed and framed by real-time PCR, long-range amplification and analysis of the microsatellite markers.ResultsSeven different mutations were detected, three were novel: c.892G>A in exon 8, silent mutation c.462A>T in exon 3 most likely affecting splicing, and a complete deletion of a single AIRE allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed.ConclusionsAIRE mutation detection was valuable in the diagnostics of APS-1 in patients with atypical presentation. Chronic otitis media possibly broadened the cluster of APS-1 manifestations.

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

2010 ◽  
Vol 73 (6) ◽  
pp. 449-457 ◽  
Author(s):  
Elizaveta M. Orlova ◽  
Anna M. Bukina ◽  
Elvira S. Kuznetsova ◽  
Maria A. Kareva ◽  
Ekaterina U. Zakharova ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Clinical Variants ◽  
Autoimmune Polyglandular Syndrome Type

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade

2021 ◽  
Vol 14 (4) ◽  
pp. e241680
Author(s):  
Aditya Sanjeevi ◽  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Shriraam Mahadevan
Keyword(s):  
Adrenal Insufficiency ◽  
Vitamin D Supplementation ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Primary Amenorrhoea ◽  
Autoimmune Polyglandular Syndrome ◽  
Nail Changes ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

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