Combined immunodeficiency in a patient with c-Rel deficiency

Sarah Beaussant-Cohen; Faris Jaber; Michel J Massaad; Sabrina Weeks; Jennifer Jones; Mohammed F Alosaimi; Jacqueline Wallace; Waleed Al-Herz; Raif S Geha; Janet Chou

doi:10.1016/j.jaci.2019.05.003

Combined immunodeficiency in a patient with c-Rel deficiency

J Allergy Clin Immunol. 2019 Aug;144(2):606-608.e4. doi: 10.1016/j.jaci.2019.05.003. Epub 2019 May 16.

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.

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.

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Child
Child, Preschool
Humans
Male
Proto-Oncogene Proteins c-rel / deficiency*
Proto-Oncogene Proteins c-rel / immunology
Severe Combined Immunodeficiency / genetics
Severe Combined Immunodeficiency / immunology*

Substances

Proto-Oncogene Proteins c-rel
REL protein, human

Combined immunodeficiency in a patient with c-Rel deficiency

Authors

Affiliations

Abstract

Publication types

MeSH terms

Substances

Grants and funding