Immunodeficiency 56

Alternative Names

  • IMD56
  • IL21R Immunodeficiency

Associated Genes

Interleukin 21 Receptor
Back to search Result
WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

615207

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16p12.1

Description

IMD56 is a form of primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Mutations in the IL21R gene have been shown to cause this autosomal recessive condition. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
605383.1.1LebanonMaleYesYes Cholangitis; Hepatic fibrosis; Chron...NM_021798.3:c.602G>THomozygousAutosomal, RecessiveKotlarz et al, 2013
605383.1.2LebanonFemaleYesYes Cholangitis; Hepatic fibrosis; Chron...NM_021798.3:c.602G>THomozygousAutosomal, RecessiveKotlarz et al, 2013 Sister of 605383.1.1
605383.2PalestineFemaleYes Decreased circulating IgG level; Respir...NM_021798.3:c.602G>AHomozygousAutosomal, RecessiveStepensky et al, 2015
© CAGS 2024. All rights reserved.