Immunodeficiency 51

Alternative Names

  • IMD51
  • Candidiasis, Familial, 5
  • CANDF5
Back to search Result
WHO-ICD-10 version:2010

Certain infectious and parasitic diseases

OMIM Number

613953

Mode of Inheritance

Autosomal recessive

Gene Map Locus

22q11.1

Description

Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A, IL17F, IL17A/F, and IL17E. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613953.1MoroccoMaleYes Chronic mucocutaneous candidiasis; Pustu...NM_014339.7:c.850C>THomozygousAutosomal, RecessiveLévy et al. 2016; Puel et al. 2011 Patient from 'kindre...
613953.2.1Saudi ArabiaMaleYesYes Chronic oral candidiasisNM_014339.7:c.112_119delHomozygousAutosomal, RecessiveLévy et al. 2016 Patient from 'kindre...
613953.2.2Saudi ArabiaFemaleYesYes Chronic oral candidiasisNM_014339.7:c.112_119delHomozygousAutosomal, RecessiveLévy et al. 2016 Sister of 613953.2.1
613953.3.1AlgeriaFemaleYes Chronic mucocutaneous candidiasisNM_014339.7:c.163+1G>AHomozygousAutosomal, RecessiveLévy et al. 2016 Patient from 'kindre...
613953.4.1Saudi ArabiaFemaleYesYes Chronic mucocutaneous candidiasisNM_014339.7:c.268delHomozygousAutosomal, RecessiveLévy et al. 2016 Patient from 'kindre...
613953.4.2Saudi ArabiaMaleYesYes Chronic mucocutaneous candidiasisNM_014339.7:c.268delHomozygousAutosomal, RecessiveLévy et al. 2016 Brother of 613953.4....
613953.4.3Saudi ArabiaMaleYesYes Chronic mucocutaneous candidiasis; Folli...NM_014339.7:c.268delHomozygousAutosomal, RecessiveLévy et al. 2016 Cousin of 613953.4.1
613953.4.4Saudi ArabiaMaleYesYes Chronic mucocutaneous candidiasis; Folli...NM_014339.7:c.268delHomozygousAutosomal, RecessiveLévy et al. 2016 Cousin of 613953.4.1
© CAGS 2022. All rights reserved.