Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting
children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis …

Background Inborn errors of immunity (IEIs) are considered significant challenges for
children with IEIs, their families, and their medical providers. Infections are the most common …

Purpose Inborn errors of immunity (IEI) are typically monogenic. Data from the Indian
subcontinent are relatively scarce. This paper evaluates IEI diagnosed in Sri Lanka …

Background DCLRE1C gene mutation leads to Artemis deficiency, a severe form of
combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive …

Abstract Consanguineous marriages in Middle Eastern and North African (MENA) countries
are deeply-rooted tradition and highly prevalent resulting into increased prevalence of …

CD27 is a costimulatory receptor involved in the maturation of the innate and adaptive
immunity. CD27, through interaction with CD70, plays a role in the control of Epstein-Barr …

Abstract Background Common Variable Immunodeficiency (CVID) is a primary
immunodeficiency syndrome resulting in recurrent infections, autoimmunity, and …

Simple Summary Cutaneous manifestations were observed in~ 44% of Iranian patients with
monogenic IEI. A considerable number of these patients developed cutaneous disorders as …

Simple Summary Comprehensive studies on non-hematologic tumors in patients with inborn
errors of immunity are scarce. Using a well-established registry of patients with long-term …

Abstract Background Selective IgA deficiency (SIgAD) is the most prevalent inborn errors of
immunity with almost unknown etiology. This study aimed to investigate the clinical …