DISEASE: P14 deficiency

Entry

H01218                      Disease

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

Brite

Human diseases [BR:br08402]
Immune system diseases
  Primary immunodeficiency
   H01218  P14 deficiency
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Immune system disorders involving white cell lineages
   4B00  Disorders of neutrophil number
    H01218  P14 deficiency

Gene

MAPBPIP [HSA:28956] [KO:K20398]

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

Reference

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

Reference

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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