Combined immunodeficiency in a patient with c-Rel deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31103457.
- Also identified by DOI 10.1016/j.jaci.2019.05.003 and PMC identifier 6688935.
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Abstract
This study reports a homozygous mutation in <i>REL</i> abrogating c-Rel protein expression in a patient with combined immunodeficiency characterized by susceptibility to <i>Mycobacterium tuberculosis</i>, <i>Salmonella</i>, <i>Cryptosporidium</i>, and cytomegalovirus.
Medical subject headings
- Proto-Oncogene Proteins c-rel
- Severe Combined Immunodeficiency