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P14 deficiency

Definition:

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.

References:

[1]. Georg Bohn, et al. A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med. 2007 Jan;13(1):38-45. [Content Brief]

[2]. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009 Dec;124(6):1161-78. [Content Brief]

[3]. Nima Rezaei, et al. Neutropenia and primary immunodeficiency diseases. Int Rev Immunol. 2009;28(5):335-66. [Content Brief]

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