CTPS1

Green CTPS1 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• IUIS Classification February 2018
• London North GLH
• NHS GMS
• GRID V2.0
• North West GLH
• Victorian Clinical Genetics Services
• Expert Review Green
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• Expert Review Green
• GRID V2.0

Phenotypes

• Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma
• Severe combined immunodeficiency due to CTPS1 deficiency
• Immunodeficiency 24, 615897
• Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH )
• Diseases of Immune Dysregulation

Green CTPS1 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• GRID V2.0

Phenotypes

• Immunodeficiency 24, 615897
• Severe combined immunodeficiency due to CTPS1 deficiency
• Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH )
• Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma
• Diseases of Immune Dysregulation

Tags

• founder-effect

Green CTPS1 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Immunodeficiency 24, 615897