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

Background: Hyper-IgE syndromes (HIES) are distinct diseases characterized by recurrent cutaneous and lung infections, eczema, and elevated serum IgE level.

Methods: In this study, clinical manifestations, immunologic findings, and genetic studies of all patients with HIES in the Iranian national registry database were evaluated.

Results: A total of 129 HIES patients with a median age of 14.

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

Background: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited.

Objectives: This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically.