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Combined immunodeficiency in a patient with c-Rel deficiency

Beaussant-Cohen S 1 , Jaber F 1 , Massaad MJ 1 , Weeks S 1 , Jones J 1 , Alosaimi MF 2 Show all authors , Wallace J 1 , Al-Herz W 3 , Geha RS 1 , Chou J 4

Affiliations 

  • 1 Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass
  • 2 Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia
  • 3 Department of Pediatrics, Faculty of Medicine, Kuwait University, and Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait
  • 4 Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address: Janet.Chou@childrens.harvard.edu
J Allergy Clin Immunol, 2019 Aug;144(2):606-608.e4.
PMID: 31103457 DOI: 10.1016/j.jaci.2019.05.003

Abstract

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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