| H01218 | |
| H number | H01218 |
| Name | P14 deficiency |
| Description | 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. |
| Category | Primary immunodeficiency |
| Network | - |
| Gene | MAPBPIP [HSA:28956] [KO:K20398] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4B00.00 ICD-10: D70 OMIM: 610798 |
| Reference | PMID:20004777 AUTHORS 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 TITLE Primary immunodeficiencies: 2009 update. JOURNAL J Allergy Clin Immunol 124:1161-78 (2009) DOI:10.1016/j.jaci.2009.10.013 PMID:19811314 AUTHORS Rezaei N, Moazzami K, Aghamohammadi A, Klein C TITLE Neutropenia and primary immunodeficiency diseases. JOURNAL Int Rev Immunol 28:335-66 (2009) DOI:10.1080/08830180902995645 PMID:17195838 AUTHORS 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 TITLE A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. JOURNAL Nat Med 13:38-45 (2007) DOI:10.1038/nm1528 |