Details of Disease

General Information of Disease (ID: DIS0NS7C)

Disease Name Severe combined immunodeficiency due to CTPS1 deficiency
Synonyms IMD24; immunodeficiency 24; SCID due to CTPS1 deficiency; immunodeficiency type 24
Definition
Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
Disease Hierarchy
DISYM8XY: T+ B+ severe combined immunodeficiency
DIS0NS7C: Severe combined immunodeficiency due to CTPS1 deficiency
Disease Identifiers
MONDO ID
MONDO_0014391
UMLS CUI
C4014617
OMIM ID
615897
MedGen ID
863054
Orphanet ID
420573

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTPS1 TTN12BZ Strong Autosomal recessive [1]
CTPS1 TTN12BZ Strong CausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CTPS1 OTZ9J6ZG Strong Autosomal recessive [1]
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References

1 CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. Nature. 2014 Jun 12;510(7504):288-92. doi: 10.1038/nature13386. Epub 2014 May 28.
2 CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection.J Clin Immunol. 2016 Nov;36(8):750-753. doi: 10.1007/s10875-016-0332-z. Epub 2016 Sep 14.