Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

The Journal of Allergy and Clinical Immunology. in Practice
Reza YazdaniAsghar Aghamohammadi

Abstract

Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses. We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings. Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID. Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. Clinical disease severity was significantly higher in patients with μ heavy chain and CD40 ligand mutations compared with patients wit...Continue Reading

Citations

Jun 12, 2019·Journal of Clinical Immunology·Bobak MoazzamiAsghar Aghamohammadi
Aug 3, 2019·Journal of Clinical Immunology·Frederik V IlkjærIsik S Johansen
Jun 26, 2020·Immunological Investigations·Saba FekrvandReza Yazdani
Aug 10, 2019·Frontiers in Immunology·Waleed Al-HerzYasmeen Othman
Jan 31, 2019·Frontiers in Immunology·Waleed Al-HerzLuigi D Notarangelo
Mar 2, 2021·Frontiers in Immunology·Yesim Yilmaz Demirdag, Sudhir Gupta
May 18, 2021·Frontiers in Pediatrics·Hassan Abolhassani
Jun 29, 2021·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Parisa AmirifarHassan Abolhassani
Mar 18, 2020·Genes & Diseases·Vaishali AggarwalAmit Rawat
Aug 22, 2021·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Hossein EsmaeilzadehNima Rezaei
Oct 8, 2021·Immunologic Research·Sinem FirtinaMuge Sayitoglu
Dec 2, 2021·Cytometry. Part a : the Journal of the International Society for Analytical Cytology·Rita CarsettiEva Piano Mortari

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