Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders
Version 1.12
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review
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Unknown
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Sources
- Expert Review Red
- Literature
Phenotypes
- {Psoriasis susceptibility 13} 614070
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Level 2: Viral research
Version 1.142
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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
- ESID Registry 20171117
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Defects in Intrinsic and Innate Immunity
- Chronic mucocutaneous candidiasis (CMC)
- Defects in intrinsic and innate immunity
- Candidiasis, familial, 8 615527
- CMC, blepharitis, folliculitis and macroglossia
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- ?Candidiasis, familial, 8, OMIM:615527
- Defects in Intrinsic and Innate Immunity
- CMC, blepharitis, folliculitis and macroglossia
- Chronic mucocutaneous candidiasis (CMC)
- Defects in intrinsic and innate immunity
Tags
- Q4_23_promote_green
- Q4_23_NHS_review
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Red
- Expert list
Phenotypes
- Immunodeficiency, common variable with lack of anti-pneumococcal antibody
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