Spectrum of Phenotypes Associated with Mutations in LRBA
…, M Fang, KK Andersen, Z Chavoshzadeh… - Journal of clinical …, 2016 - Springer
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 …
from a variety of clinical symptoms. These mutations abolish the expression of the LRBA …
Global systematic review of primary immunodeficiency registries
…, M Sohani, P Shirmast, Z Chavoshzadeh… - Expert review of …, 2020 - Taylor & Francis
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 …
(PID) has played an essential role in different aspects of these diseases worldwide …
The Middle East and North Africa diagnosis and management guidelines for inborn errors of immunity
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 …
children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis …
[HTML][HTML] Heterologous immunization with inactivated vaccine followed by mRNA-booster elicits strong immunity against SARS-CoV-2 Omicron variant
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 …
the urgent need to study more efficient vaccination strategies. Here we observed that an …
Human IL-23 is essential for IFN-γ–dependent immunity to mycobacteria
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 …
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
…, T Asano, H Abolhassani, Z Chavoshzadeh… - Journal of Experimental …, 2023 - rupress.org
Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-kinase
[PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a …
[PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a …
Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease
…, S Mamishi, F Zandieh, Z Chavoshzadeh… - Journal of clinical …, 2011 - Springer
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 (…
genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (…
[HTML][HTML] Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity …
…, N Padem, AM Khojah, Z Chavoshzadeh… - Journal of Allergy and …, 2020 - Elsevier
Background Recent findings strongly support hematopoietic stem cell transplantation (HSCT)
in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) …
in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) …
Fourth update on the Iranian National Registry of Primary Immunodeficiencies: integration of molecular diagnosis
…, F Kiaee, M Tavakol, Z Chavoshzadeh… - Journal of clinical …, 2018 - Springer
Background The number of inherited diseases and the spectrum of clinical manifestations of
primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using …
primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using …
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 …
with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East …