| H01218 | |
| H番号 | H01218 |
| 名称 | P14 欠損症 |
| 概要 | The deficiency of the late endosomal-lysosomal MEK binding partner 1 (MP1)-interacting protein (also known as p14 and MAPBPIP) causes a primary immunodeficiency syndrome comprising congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. This protein is an adaptor molecule orchestrating the subcellular anatomy of MAP kinase signaling, and is crucial for the function of neutrophils, B cells, cytotoxic T cells and melanocytes. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | - |
| 病因遺伝子 | MAPBPIP [HSA:28956] [KO:K20398] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4B00.00 ICD-10: D70 OMIM: 610798 |
| 文献 | PMID:20004777 著者 Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J タイトル Primary immunodeficiencies: 2009 update. 雑誌 J Allergy Clin Immunol 124:1161-78 (2009) DOI:10.1016/j.jaci.2009.10.013 PMID:19811314 著者 Rezaei N, Moazzami K, Aghamohammadi A, Klein C タイトル Neutropenia and primary immunodeficiency diseases. 雑誌 Int Rev Immunol 28:335-66 (2009) DOI:10.1080/08830180902995645 PMID:17195838 著者 Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schaffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C タイトル A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. 雑誌 Nat Med 13:38-45 (2007) DOI:10.1038/nm1528 |