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
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Immunology Flagship
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV)
- CD16 deficiency
- predisposition to severe viral infection
- Immunodeficiency 20, 615707
- Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
- Defects in Intrinsic and Innate Immunity
- Fc receptor deficiencies
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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
- IUIS Classification December 2019
- Expert Review Amber
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Immunodeficiency 20, 615707
- CD16 deficiency
- Defects in Intrinsic and Innate Immunity
- Fc receptor deficiencies
- predisposition to severe viral infection
- severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV)
- Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
Tags
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency 20, 615707
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