Human Gene Set: BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN


Standard name BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN
Systematic name M11778
Brief description Genes down-regulated in B lymphocytes from patients with primary immunodefiency syndrom.
Full description or abstract Lysosome-related organelles have versatile functions, including protein and lipid degradation, signal transduction and protein secretion. The molecular elucidation of rare congenital diseases affecting endosomal-lysosomal biogenesis has given insights into physiological functions of the innate and adaptive immune system. Here, we describe a previously unknown human primary immunodeficiency disorder and provide evidence that the endosomal adaptor protein p14, previously characterized as confining mitogen-activated protein kinase (MAPK) signaling to late endosomes, is crucial for the function of neutrophils, B cells, cytotoxic T cells and melanocytes. Combining genetic linkage studies and transcriptional profiling analysis, we identified a homozygous point mutation in the 3' untranslated region (UTR) of p14 (also known as MAPBPIP), resulting in decreased protein expression. In p14-deficient cells, the distribution of late endosomes was severely perturbed, suggesting a previously unknown role for p14 in endosomal biogenesis. These findings have implications for understanding endosomal membrane dynamics, compartmentalization of cell signal cascades, and their role in immunity.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 17195838   Authors: Bohn G,Allroth A,Brandes G,Thiel J,Glocker E,Schäffer AA,Rathinam C,Taub N,Teis D,Zeidler C,Dewey RA,Geffers R,Buer J,Huber LA,Welte K,Grimbacher B,Klein C
Exact source Table 3S: expression values < 1
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Source species Homo sapiens
Contributed by Jessica Robertson (MSigDB Team)
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identifier namespace		 HUMAN_SEQ_ACCESSION
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Version history 3.0: First introduced

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