Combined immunodeficiency in a patient with deficiency of c-Rel

This study reports a homozygous mutation in REL abrogating c-Rel protein expression in a patient with combined immunodeficiency characterized by susceptibility to Mycobacterium tuberculosis , Salmonella , Cryptosporidium , and cytomegalovirus.

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2019-05, Vol.144 (2), p.606-608.e4
Main Authors: Beaussant-Cohen, Sarah, Jaber, Faris, Massaad, Michel J., Weeks, Sabrina, Jones, Jennifer, Alosaimi, Mohammed F., Wallace, Jacqueline, Al-Herz, Waleed, Geha, Raif S., Chou, Janet
Format: Article
Language:English
Online Access:Get full text
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Description
Summary:This study reports a homozygous mutation in REL abrogating c-Rel protein expression in a patient with combined immunodeficiency characterized by susceptibility to Mycobacterium tuberculosis , Salmonella , Cryptosporidium , and cytomegalovirus.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2019.05.003