To date, several germline mutations have been identified in the LRBA gene in patients suffering
from a variety of clinical symptoms. These mutations abolish the expression of the LRBA …

Introduction During the last 4 decades, registration of patients with primary immunodeficiencies
(PID) has played an essential role in different aspects of these diseases worldwide …

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 …

The recent emergence of the Omicron variant has raised concerns on vaccine efficacy and
the urgent need to study more efficient vaccination strategies. Here we observed that an …

Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …

Background Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a
genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (…

Background Recent findings strongly support hematopoietic stem cell transplantation (HSCT)
in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) …

Background The number of inherited diseases and the spectrum of clinical manifestations of
primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using …

Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-kinase
[PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a …

… Ghadami PhD h , Amir Ali Hamidieh MD i , Gholamreza Azizi PhD j , Reza Yazdani PhD a
k , Mohsen Afarideh MD a , Alireza Ghajar MD a , Arash Havaei MD a , Zahra Chavoshzadeh …