| H00090 | |
| H番号 | H00090 |
| 名称 | NK細胞障害 |
| 概要 | A patient with a mutation in CD16, also known as FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the FcgRIII found on NK cells as well as macrophages and some T cells. The receptor allows NK cells to phagocytose organisms or cells coated with IgG in the absence of MHC (antibody-dependent cellular cytotoxicity). The mutation disrupts NK cell function and is associated with NK cytopenia. The patient also had severe clinical problems after BCG vaccination. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | - |
| 病因遺伝子 | FCGR3A [HSA:2214] [KO:K06463] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A00.3 |
| 文献 | PMID:17162365 著者 Kumar A, Teuber SS, Gershwin ME. タイトル Current perspectives on primary immunodeficiency diseases. 雑誌 Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 PMID:8874200 著者 de Vries E, Koene HR, Vossen JM, Gratama JW, von dem Borne AE, Waaijer JL, Haraldsson A, de Haas M, van Tol MJ タイトル Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections. 雑誌 Blood 88:3022-7 (1996) |