scholarly journals Autoimmune polyglandular syndrome type I. Features of clinical manifestations, difficulties in diagnosis and methods of correction

2021 ◽  
Vol 12 (4) ◽  
pp. 67-73
Author(s):  
G. A. Galkina ◽  
L. S. Mikhailichenko ◽  
D. I. Sozaeva ◽  
S. B. Berezhanskaya ◽  
A. A. Afonin
Keyword(s):  
Autosomal Recessive ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Diagnostic Algorithm ◽  
Autosomal Recessive Inheritance ◽  
Type I ◽  
Autoimmune Polyglandular Syndrome ◽  
Life Threatening ◽  
Autoimmune Polyglandular Syndrome Type ◽  
The Moment

Autoimmune polyglandular syndrome (APG) type I is an orphan disease with autosomal recessive inheritance caused by mutations in the autoimmune regulator gene (AIRE); the disease onset typically occurs in childhood. The disease is characterized by a wide variety of clinical manifestations with a certain stage in the manifestation of individual symptoms. The rare occurrence of this pathology determines its late diagnosis, which can lead to the decompensated life-threatening conditions and an unfavorable outcome. Widely informing pediatric specialists will contribute to the development of a diagnostic algorithm for timely verifying the disease from the moment its first clinical manifestations appear, and will improve the quality and life expectancy of the patients. 

scholarly journals Intracranial Calcifications in Autoimmune Polyendocrine Ectodermal Dystrophy Syndrome (APECED): About A Case Report

2021 ◽  
pp. 1-3
Author(s):  
Benfaddoul O ◽  
◽  
Zouita B ◽  
El azzouzi B ◽  
Basraoui N ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Chronic Mucocutaneous Candidiasis ◽  
Type I ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrinopathy ◽  
Life Threatening ◽  
Autoimmune Polyglandular Syndrome Type

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

scholarly journals A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

2019 ◽  
Vol 6 ◽  
pp. 2333794X1984507 ◽  
Author(s):  
Ryan Kenneth Smith ◽  
Peter M. Gerrits
Keyword(s):  
Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Threatening Condition ◽  
Viral Illness ◽  
Persistent Fatigue ◽  
Life Threatening ◽  
Local Emergency Department ◽  
Autoimmune Polyglandular Syndrome Type ◽  
High Index Of Suspicion

Adrenal insufficiency is a rare, potentially life-threatening condition whose diagnosis requires a high index of suspicion. Adrenal insufficiency may be primary, secondary, or tertiary with varied etiologies. Primary insufficiency may be part of a cluster of autoimmune diseases, referred to as autoimmune polyglandular syndrome(s) (APS). We describe a case of a 15-year-old male who presents to a local emergency department complaining of fatigue, fever, abdominal pain, nausea, and vomiting for a few days with a preceding viral illness. The patient was hyponatremic and hyperkalemic with skin hyperpigmentation, raising concern for adrenal insufficiency. Laboratory workup confirmed autoimmune primary adrenal insufficiency, with subsequent laboratory studies revealing autoimmune thyroiditis and celiac disease. Concomitant Addison’s and Hashimoto’s diseases led to a diagnosis of APS type 2. The patient was started on steroid replacement with rapid clinical improvement.

scholarly journals Defective Suppressor Function of Human CD4+ CD25+ Regulatory T Cells in Autoimmune Polyglandular Syndrome Type II

2004 ◽  
Vol 199 (9) ◽  
pp. 1285-1291 ◽  
Author(s):  
Martin A. Kriegel ◽  
Tobias Lohmann ◽  
Christoph Gabler ◽  
Norbert Blank ◽  
Joachim R. Kalden ◽  
...  
Keyword(s):  
T Cells ◽  
Regulatory T Cells ◽  
Autoimmune Diseases ◽  
Type I ◽  
Type Ii ◽  
Central Tolerance ◽  
Autoimmune Polyglandular Syndrome ◽  
Healthy Donors ◽  
Organ Specific ◽  
Autoimmune Polyglandular Syndrome Type

In autoimmune polyglandular syndromes (APS), several organ-specific autoimmune diseases are clustered. Although APS type I is caused by loss of central tolerance, the etiology of APS type II (APS-II) is currently unknown. However, in several murine models, depletion of CD4+ CD25+ regulatory T cells (Tregs) causes a syndrome resembling human APS-II with multiple endocrinopathies. Therefore, we hypothesized that loss of active suppression in the periphery could be a hallmark of this syndrome. Tregs from peripheral blood of APS-II, control patients with single autoimmune endocrinopathies, and normal healthy donors showed no differences in quantity (except for patients with isolated autoimmune diseases), in functionally important surface markers, or in apoptosis induced by growth factor withdrawal. Strikingly, APS-II Tregs were defective in their suppressive capacity. The defect was persistent and not due to responder cell resistance. These data provide novel insights into the pathogenesis of APS-II and possibly human autoimmunity in general.

Reversible hyperkinesia in a patient with autoimmune polyglandular syndrome type I

1993 ◽  
Vol 71 (11) ◽  
Author(s):  
T. Baumert ◽  
G. Kleber ◽  
J. Schwarz ◽  
A. St�bler ◽  
R. Lamerz ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Science ◽  
2020 ◽  
Vol 370 (6515) ◽  
pp. eabd4570 ◽  
Author(s):  
Qian Zhang ◽  
Paul Bastard ◽  
Zhiyong Liu ◽  
Jérémie Le Pen ◽  
Marcela Moncada-Velez ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Rare Variants ◽  
Human Fibroblasts ◽  
Severe Infection ◽  
Type I ◽  
Type I Ifn ◽  
Loss Of Function ◽  
Inborn Errors ◽  
Life Threatening ◽  
Dependent Type

Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)– and interferon regulatory factor 7 (IRF7)–dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17 to 77 years of age. We show that human fibroblasts with mutations affecting this circuit are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.

Malabsorption Due to Cholecystokinin Deficiency in a Patient with Autoimmune Polyglandular Syndrome Type I

2001 ◽  
Vol 344 (4) ◽  
pp. 270-274 ◽  
Author(s):  
Christoph Högenauer ◽  
Richard L. Meyer ◽  
George J. Netto ◽  
Diana Bell ◽  
Katherine H. Little ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type
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