Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Combined B and T cell defect v1.12
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- Combined B and T cell defect v1.12
Phenotypes
- Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity
- Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease
- Combined immunodeficiency
- T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
- Immunodeficiencies affecting cellular and humoral immunity
- AR hyperimmunoglobulin E syndrome
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Version 4.201
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 Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- Combined B and T cell defect v1.12
Phenotypes
- Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity
- T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868
- AR hyperimmunoglobulin E syndrome
- Combined immunodeficiency
- Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease
- Immunodeficiencies affecting cellular and humoral immunity
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Version 3.32
Latest signed off version: v3.0
(22 Mar 2023)
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review
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Unknown
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Sources
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868
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Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
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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
- T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868
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