CARD11

caspase recruitment domain family member 11
OMIM: 607210, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CARD11 in Severe multi-system atopic disease with high IgE

Level 3: Atopy
Level 2: Dermatological disorders
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multisystem atopic disease, eczema, raised IgE, low IgM, eosinophilia
  • B-cell expansion with NFKB and T-cell anergy, OMIM:616452

Green CARD11 in COVID-19 research


Level 2: Viral research
Version 1.130

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • immunodeficiency 11B with atopic dermatitis (AD), 617638
  • CARD11 deficiency
  • Combined immunodeficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Pneumocystis jirovecii pneumonia, bacterial and viral infections
  • Severe atopy, recurrent infections
  • B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Splenomegaly, lymphadenopathy, poor vaccine response
  • Immunodeficiencies affecting cellular and humoral immunity
  • Predominantly Antibody Deficiencies
  • Predominantly antibody deficiencies
  • Combined immunodeficiencies with associated or syndromic features
  • Immunodeficiency 11A, 615206 (AR)

Green CARD11 in Rare genetic inflammatory skin disorders


Version 1.54
Latest signed off version: v1.6 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis, OMIM:617638

Green CARD11 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 11A, 615206 (AR)
  • CARD11 deficiency
  • Predominantly antibody deficiencies
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452
  • immunodeficiency 11B with atopic dermatitis (AD), 617638
  • Severe atopy, recurrent infections
  • Combined immunodeficiencies with associated or syndromic features
  • Splenomegaly, lymphadenopathy, poor vaccine response
  • Predominantly Antibody Deficiencies
  • Pneumocystis jirovecii pneumonia, bacterial and viral infections
  • Immunodeficiencies affecting cellular and humoral immunity

Red CARD11 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green CARD11 in Severe Paediatric Disorders


Version 1.127

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • B-cell expansion with NFKB and T-cell anergy, 616452
  • Immunodeficiency 11A, 615206
  • Immunodeficiency 11B with atopic dermatitis, 617638