The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
Mahmood TavassoliAsghar Aghamohammadi

Abstract

Hyper-IgE syndromes (HIES) are distinct diseases characterized by recurrent cutaneous and lung infections, eczema, and elevated serum IgE level. In this study, clinical manifestations, immunologic findings, and genetic studies of all patients with HIES in the Iranian national registry database were evaluated. A total of 129 HIES patients with a median age of 14.0 (9.0-24.0) years were followed up for a total of 307.8 patient-years. Genetic studies showed heterozygous STAT3 mutations in 19 patients and homozygous DOCK8 mutation in 16 patients. The mean of National Institutes of Health score in STAT3-deficient patients was higher than in patients with DOCK8 mutation (P = 0.001). It was shown that the presence of pneumatocele and hematologic complication were significantly frequent in STAT3-deficient cases compared to patients with DOCK8 deficiency (P = 0.001 and P = 0.002, respectively). Moreover, the median IgE serum levels were higher in patients with STAT3 gene mutation than in patients with DOCK8 gene mutation (P = 0.02). The eosinophils' count was enhanced in patients with DOCK8 deficiency than in patients with STAT3 gene defects (P = 0.02). Specific molecular study of STAT3 and DOCK8 mutations in patients with HIES clinical...Continue Reading

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Citations

May 31, 2019·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Philippe Eigenmann
Sep 19, 2020·Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology·Li LinXiaochuan Wang
Dec 11, 2020·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Nurhan KasapSafa Baris
May 2, 2021·Journal of Clinical Immunology·Christo TsilifisAndrew R Gennery
Jun 18, 2021·The Journal of Experimental Medicine·Takaki AsanoBertrand Boisson
Aug 15, 2021·Journal of Clinical Immunology·Natalie FredeBodo Grimbacher

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