Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3
|
review
|
Not set
|
Sources
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 2: Viral research
Version 1.142
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- IUIS Classification February 2018
- A- or hypo-gammaglobulinaemia v1.25
- 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
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Autoimmune lymphoproliferative syndrome, type V
- interstitual lung disease
- autoimmunity
- lymphadenopathy
- T cell lymphopenia
- Combined immunodeficiency
- Immune dysregulation
- a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation
- Diseases of Immune Dysregulation
- Early-onset multi-organ autoimmune disease
- Autoimmune lymphoproliferative syndrome, type V 616100
- hypogammaglobulinaemia
- enteropathy
- Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections
- CVID
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100
- {Celiac disease, susceptibility to, 3}, OMIM:609755
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
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
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- CVID
- hypogammaglobulinaemia
- lymphadenopathy
- T cell lymphopenia
- enteropathy
- interstitual lung disease
- autoimmunity
- Autoimmune lymphoproliferative syndrome, type V 616100
- Autoimmune lymphoproliferative syndrome, type V
- Combined immunodeficiency
- Early-onset multi-organ autoimmune disease
- Immune dysregulation
- a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation
- Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections
- Diseases of Immune Dysregulation
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Autoimmune lymphoproliferative syndrome, type V, 616100
|