MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes

The Journal of Allergy and Clinical Immunology. in Practice
Rabab E El HawaryAisha M Elmarsafy

Abstract

MHC class II deficiency leads to defective CD4+ T-cell function that results from impaired antigen presentation. A genetic disorder in 1 of 4 genes results in this syndrome that is associated with the clinical phenotype of combined immunodeficiency. To describe the clinical, immunological, and molecular characteristics of 10 Egyptian patients from 9 different families having presented with MHC class II deficiency between 2012 and 2017. An initial diagnosis based on the combination of clinical features and low HLA-DR expression by flow cytometry was confirmed by genetic analyses. Symptoms included failure to thrive (n = 9), persistent diarrhea (n = 5), and pneumonia (n = 8). Septicemia due to coagulase-negative staphylococci (n = 1) and Candida krusei (n = 1) was diagnosed. Nine patients orally received the live attenuated polio vaccine, of whom 3 developed acute flaccid paralysis thereafter. Nine patients received the BCG vaccine and none developed obvious signs of BCGitis. Four patients carried RFXANK gene mutations, 3 carried RFX5 gene mutations, 1 carried a CIITA gene mutation, and none carried RFXAP gene mutations. Six of the 7 detected mutations were previously unreported mutations: c.431T>C, c.247_250delTCAG, and c.600del...Continue Reading

Citations

May 6, 2020·Cellular and Molecular Life Sciences : CMLS·Julia RühlChristian Münz
Sep 3, 2020·Open Forum Infectious Diseases·Yu Qing CaiLan Fang Tang
Nov 14, 2020·The Journal of Allergy and Clinical Immunology. in Practice·Andrea A MauracherJana Pachlopnik Schmid
Jan 26, 2020·The Journal of Allergy and Clinical Immunology. in Practice·Michael SchatzRobert S Zeiger

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