Level 2: Viral research
Version 1.141
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Immunodeficiency 27A, (AR) 209950
- Susceptibility to mycobacteria and Salmonella
- Mycobacteriosis
- Defects with susceptibility to mycobacterial infection (MSMD)
- Defects in Intrinsic and Innate Immunity
- Immunodeficiency 27B, (AD) 615978
|
Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- 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
Phenotypes
- Immunodeficiency 27A, (AR) 209950
- Immunodeficiency 27B, (AD) 615978
- Mycobacteriosis
- Defects with susceptibility to mycobacterial infection (MSMD)
- Susceptibility to mycobacteria and Salmonella
- Defects in Intrinsic and Innate Immunity
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency 27A, mycobacteriosis, AR, 209950
- Immunodeficiency 27B, mycobacteriosis, AD, 615978
|