Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Immunodeficiency, X-linked, with hyper-IgM 308230
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.74
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Early Onset Inflammatory Bowel Disease
- Immunodeficiency, X-linked, with hyper-IgM 308230
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Level 2: Viral research
Version 1.141
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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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
- Hyper-IGM immunodeficiency, X-linked
- HIGM
- Hyper-IGM syndrome
- Hyper-IgM syndrome type 1
- Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections
- XHIM
- Immunodeficiency, X-linked, with hyper-IgM
- Immunodeficiencies affecting cellular and humoral immunity
- Hyper-IgM syndrome due to CD40 ligand deficiency
- Hyper-IgM syndrome due to CD40L deficiency
- IHIS
- HIGM1
- IMD3
- CSR defects and Hyper IgM (HIGM) syndromes
- Immunodeficiency 3
- CD40 ligand deficiency
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
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
- Immunodeficiency, X-linked, with hyper-IgM
- CD40 ligand deficiency
- CSR defects and Hyper IgM (HIGM) syndromes
- Hyper-IGM immunodeficiency, X-linked
- XHIM
- Hyper-IGM syndrome
- HIGM
- IHIS
- Immunodeficiency 3
- IMD3
- Hyper-IgM syndrome due to CD40 ligand deficiency
- Hyper-IgM syndrome due to CD40L deficiency
- Hyper-IgM syndrome type 1
- HIGM1
- Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections
- Immunodeficiencies affecting cellular and humoral immunity
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Version 3.27
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
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
- Immunodeficiency, X-linked, with hyper-IgM, 308230
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Version 1.182
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency, X-linked, with hyper-IgM, 308230
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