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Chronic granulomatous disease due to deficiency of NCF-1

MedGen UID:
942057
•Concept ID:
CN259021
•
Disease or Syndrome

Recent clinical studies

Etiology

Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors.
Nunoi H, Rotrosen D, Gallin JI, Malech HL
Science 1988 Dec 2;242(4883):1298-301. doi: 10.1126/science.2848319. PMID: 2848319

Clinical prediction guides

Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees chronic granulomatous disease carrier detection.
Heyworth PG, Noack D, Cross AR
Blood 2002 Sep 1;100(5):1845-51. doi: 10.1182/blood-2002-03-0861. PMID: 12176908

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    Related information

    • ClinVar
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    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PubMed
      Related literature resources in PubMed

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