2019
DOI: 10.18502/ijaai.v17i6.624
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MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report

Abstract: Major histocompatibility complex (MHC) class II deficiency is a rare primary immunodeficiency disorder (PID) with less than 200 cases worldwide. Here, we report an 8 month–old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene (NM_001278728: exon 5: c.495G>A: p.Trp165*) and normal CD4+ T cell counts, diagnosed by whole exome sequencing (WES) and negative HLA–DR proteins on peripheral blood mononuclear cell (PBMC) in flow cytometry. She was referred with pneumonia, prolonged fe… Show more

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Cited by 5 publications
(4 citation statements)
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“…We report on 18 Iranian MHC-II de cient unrelated patients in this case series. Thirteen patients are new, and ve have been reported previously (26,27,28,29,30). Informed consent for participating in the study was obtained from the patients or their parents.…”
Section: Methodsmentioning
confidence: 99%
“…We report on 18 Iranian MHC-II de cient unrelated patients in this case series. Thirteen patients are new, and ve have been reported previously (26,27,28,29,30). Informed consent for participating in the study was obtained from the patients or their parents.…”
Section: Methodsmentioning
confidence: 99%
“…MHC II deficiency is divided into 4 groups, groups A to D, which are CIITA, RFXANK, RFX5, and RFXAP, respectively [ 4 ]. Group B MHC II deficiency is the most common, with more than half of the patients [ 11 ]. Besides the RFXANK gene mutation, most MHC II deficiency patients present with the context of consanguinity or ethnically similar communities, the majority in North Africa [ 12 ].…”
Section: Literature Reviewmentioning
confidence: 99%
“…The discrepancy between these conclusions may lie within an inability to distinguish survival from proliferation, thymic output versus peripheral T cell survival, or the subtype of peripheral T cells analyzed (for example, naïve versus memory) ( 2 , 8 ). Even in the complete absence of MHC class II molecules, in both mice and humans, peripheral T cells can be maintained for prolonged times ( 9 , 10 ), raising the possibility of the existence of alternative mechanisms regulating naïve T cell survival.…”
Section: Introductionmentioning
confidence: 99%