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Reduced lymphocyte surface expression of CD43

MedGen UID:
867397
Concept ID:
C4021766
Finding
Synonyms: Cd43 defectively expressed on surface of blood cells; Reduced lymphocyte surface expression of sialophorin
 
HPO: HP:0001983

Definition

A reduction in the expression of CD43 on the cell surface of lymphocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced lymphocyte surface expression of CD43

Conditions with this feature

Wiskott-Aldrich syndrome
MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.

Recent clinical studies

Etiology

Kristensen B, Hegedüs L, Lundy SK, Brimnes MK, Smith TJ, Nielsen CH
PLoS One 2015;10(5):e0127949. Epub 2015 May 27 doi: 10.1371/journal.pone.0127949. PMID: 26016954Free PMC Article

Therapy

Yamanaka K, Dimitroff CJ, Fuhlbrigge RC, Kakeda M, Kurokawa I, Mizutani H, Kupper TS
J Allergy Clin Immunol 2008 Jan;121(1):148-157.e3. Epub 2007 Oct 1 doi: 10.1016/j.jaci.2007.08.014. PMID: 17910894Free PMC Article

Clinical prediction guides

Kotb A, Klippert A, Daskalaki M, Sauermann U, Stahl-Hennig C, Neumann B
Immunol Cell Biol 2017 Mar;95(3):316-320. Epub 2016 Oct 25 doi: 10.1038/icb.2016.96. PMID: 27779180Free PMC Article
Kristensen B, Hegedüs L, Lundy SK, Brimnes MK, Smith TJ, Nielsen CH
PLoS One 2015;10(5):e0127949. Epub 2015 May 27 doi: 10.1371/journal.pone.0127949. PMID: 26016954Free PMC Article
He J, Baum LG
Lab Invest 2006 Jun;86(6):578-90. doi: 10.1038/labinvest.3700420. PMID: 16607379
Wikström I, Bergqvist I, Holmberg D, Forssell J
Mol Immunol 2006 Mar;43(9):1316-24. doi: 10.1016/j.molimm.2005.09.020. PMID: 16321440

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