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Article

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.

Clinical and experimental immunology - 1 Jul 2008

Gennery A R, Slatter M A, Rice J, Hoefsloot L H, Barge D, McLean-Tooke A, Montgomery T, Goodship J A, Burt A D, Flood T J, Abinun M, Cant A J, Johnson D

Abstract excerpt

More than 11 genetic causes of severe combined immunodeficiency (SCID) have been identified, affecting development and/or function of T lymphocytes, and sometimes B lymphocytes and natural killer (NK) cells. Deletion of 22q11.2 is associated with immunodeficiency, although less than 1% of cases a...

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Source

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Identifiers

PMID: 18505430
DOI: 10.1111/j.1365-2249.2008.03681.x
PMCID: PMC2432100

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18505430-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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