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 gene sets
      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
Related gene sets (show 1 additional gene sets from the source publication)

(show 40 gene sets from the same authors)
External links  
Filtered by similarity
Organism Homo sapiens
Contributed by Jessica Robertson (MSigDB Team)
Source platform HUMAN_SEQ_ACCESSION
Dataset references (show 1 datasets)
Download gene set format: grp | text | gmt | gmx | xml
Compute overlaps (show collections to investigate for overlap with this gene set)
Compendia expression profiles GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 38 genes
Gene families Categorize these 38 genes by gene family
Show members (show 40 members mapped to 38 genes)
Version history 3.0: First introduced

See MSigDB license terms here. Please note that certain gene sets have special access terms.