Natural killer cell deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Rim Halaby, M.D. [2]; Yazan Daaboul, M.D.; Serge Korjian M.D.

Synonyms and keywords: Classical NK cell deficiency, CNKD, CKND subtype 1, CNKD1, CKND subtype 2, CNKD2, functional NK cell deficiency, FNKD, FKND subtype 1, FKND1, NKD, NK cells deficiency syndrome, NK cell immunosuppression, Isolated NK cell deficiency, acquired NK cell deficiency, NK cell deficiency in AIDS

Overview

Natural killer (NK) cells deficiency is a rare condition characterized by either the deficiency, absence, or malfunction of NK cells, without the involvement of other types of immunological abnormalities and in the absence of secondary etiologies such as medications or viral infections.[1] NK cell deficiency is considered a type of immunosuppression. Acquired NK cells deficiency is not an uncommon finding among AIDS patients.[2]

Classification

  • Classical NK cell deficiency (CNKD): Absence of NK cells in the peripheral blood
    • CKND subtype 1
    • CKND subtype 2
  • Functional NK cell deficiency (FNKD): Presence of NK cells in the peripheral blood but with abnormal function
    • FKND subtype 1[1]

Causes

Genes

  • GATA2 (CNKD1)
  • MCM4 (CNKD2)
  • FCGR3A (FNKD1)[1]

References

  1. 1.0 1.1 1.2 Orange JS (2013). "Natural killer cell deficiency". J Allergy Clin Immunol. 132 (3): 515–25, quiz 526. doi:10.1016/j.jaci.2013.07.020. PMC 3917661. PMID 23993353.
  2. Sirianni MC, Tagliaferri F, Aiuti F (1990). "Pathogenesis of the natural killer cell deficiency in AIDS". Immunol Today. 11 (3): 81–2. PMID 2186744.