Literature record
Combined immunodeficiency in a patient with c-Rel deficiency.
PMID 31103457 | PMCID PMC6688935 | DOI 10.1016/j.jaci.2019.05.003 · The Journal of allergy and clinical immunology · 2019 · View on PubMed ↗
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.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | 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.” | 0.98 | hgnc_dict_v1 |
| phenotype | tuberculosis | “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.” | 0.98 | phenotype_alias_lexicon_v2 |