5 results match your criteria: "Beni-Messous University Hospital Center[Affiliation]"
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Sci Immunol
January 2025
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
View Article and Find Full Text PDFInherited human ZNF341 deficiency.
Curr Opin Immunol
June 2023
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris Cité, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. Electronic address:
Article Synopsis
- Typical hyper-IgE syndromes (HIES) are linked to genetic variants in STAT3, IL6ST, or ZNF341, with only 20 patients reported with autosomal-recessive ZNF341 deficiency.
- Patients with this deficiency show milder symptoms and lower NK cell counts compared to those with dominant STAT3 deficiency, despite having 50% normal STAT3 levels.
- The review discusses the limited understanding of ZNF341's role and how the combination of reduced STAT3 levels and impaired autoinduction in ZNF341-deficient cells may contribute to their symptoms.
The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity.
J Allergy Clin Immunol Pract
January 2023
Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass.
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 can be challenging and depends on the available human expertise and laboratory resources. The Middle East and North Africa (MENA) region has an increased prevalence of IEI because of the high rate of consanguinity with a predominance of autosomal recessive disorders.
View Article and Find Full Text PDFInborn Errors of Immunity in Algerian Children and Adults: A Single-Center Experience Over a Period of 13 Years (2008-2021).
Front Immunol
May 2022
Department of Medical Immunology, Beni Messous University Hospital Center, University of Algiers 1, Algiers, Algeria.
Background: Inborn errors of immunity (IEI) predispose patients to various infectious and non-infectious complications. Thanks to the development and expanding use of flow cytometry and increased awareness, the diagnostic rate of IEI has markedly increased in Algeria the last decade.
Aim: This study aimed to describe a large cohort of Algerian patients with probable IEI and to determine their clinical characteristics and outcomes.
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Front Immunol
December 2021
Department of Medical Immunology, Beni-Messous University Hospital Center, Algiers, Algeria.
X-linked severe combined immunodeficiency (X-SCID) is caused by mutations of , the gene encoding the interleukin common gamma chain (IL-2Rγ or γc) of cytokine receptors for interleukin (IL)-2, IL-4, IL-7, IL-9, IL-15, and IL-21. Hypomorphic mutations of may cause combined immunodeficiencies with atypical clinical and immunological presentations. Here, we report a clinical, immunological, and functional characterization of a missense mutation in exon 1 (c.
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