Level 2: Viral research
Version 1.142
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- London North GLH
- GOSH PID v.8.0
- 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
- GOSH PID v.8.0
Phenotypes
- Autoimmune lymphoproliferative syndrome, type IB, 601859
- Diseases of Immune Dysregulation
- Autoimmune lymphoproliferative syndrome, type IB (ALPS-FASG)
- Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated
- Autoimmune lymphoproliferative syndrome (ALPS)
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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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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
- GOSH PID v.8.0
Phenotypes
- Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859
- autoimmune lymphoproliferative syndrome type 1, MONDO:0011158
- systemic lupus erythematosus (SLE)
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Autoimmune lymphoproliferative syndrome, type IB, 601859
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