Publications by authors named "M Sadeghi-Shabestari"
Noninfectious Complications in B-Lymphopenic Common Variable Immunodeficiency.
J Investig Allergol Clin Immunol
July 2024
Article Synopsis
- Common variable immunodeficiency (CVID) is a significant disorder characterized by both infectious and noninfectious complications, with 66.4% of patients experiencing noninfectious issues such as enteropathy and autoimmunity.
- In a study of 387 CVID patients, those with B-cell lymphopenia showed higher rates of certain complications, particularly in the dermatologic, endocrine, and musculoskeletal systems.
- The study highlights the need for routine monitoring and appropriate treatment strategies, including medication alongside immunoglobulin therapy, to manage complications associated with CVID effectively.
Article Synopsis
- - The study focused on 16 Iranian patients with very early-onset inflammatory bowel disease (VEO-IBD), aiming to explore the role of underlying genetic issues related to inborn errors of immunity (IEI) in this condition.
- - Most patients were young (median age of 43.5 months), with symptoms starting around 4 months; common signs included chronic diarrhea and perianal diseases, with a notable prevalence of consanguinity among parents.
- - Whole exome sequencing (WES) revealed genetic variants in 81.3% of patients, highlighting notable gene mutations like IL10RB, and emphasizing the need for genetic evaluation in early-onset IBD cases due to the high incidence of mon
We describe humans with rare biallelic loss-of-function variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αβ T cell development.
View Article and Find Full Text PDFBackground: Inborn errors of immunity (IEI) are a diverse range of genetic immune system illnesses affecting the innate and/or adaptive immune systems. Variable expressivity and incomplete penetrance have been reported in IEI patients with similar clinical diagnoses or even the same genetic mutation.
Methods: Among all recorded patients in the national IEI registry, 193 families with multiple cases have been recognized.
Article Synopsis
- This study analyzed 69 patients suspected of having Leukocyte Adhesion Deficiency-I (LAD-I) over a 15-year period to better classify the severity based on clinical, laboratory, and genetic findings.
- The majority of patients were diagnosed at a median age of 6 months, with a notable delayed diagnosis and high rates of severe cases, leading to a 44.9% mortality rate.
- Genetic testing revealed several mutations associated with the disease, highlighting the importance of early detection and awareness among physicians to improve patient outcomes and support families with a history of LAD-I.