Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- IL21 deficiency (Combined variable immunodeficiency-like)
- severe diarrhea and inflammatory bowel disease
- Early-onset inflammatory bowel disease
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Level 2: Viral research
Version 1.141
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- GRID V2.0
- Victorian Clinical Genetics Services
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- Immunodeficiency, common variable, 11, 615767
- Severe early onset colitis, recurrent sinopulmonary infections
- Immunodeficiencies affecting cellular and humoral immunity
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Other
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- Immunodeficiency, common variable, 11 , OMIM:615767
- Severe early onset colitis, recurrent sinopulmonary infections
- Immunodeficiencies affecting cellular and humoral immunity
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Immunodeficiency, common variable, 11, 615767
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