{"Name":"Combined immunodeficiency due to CTPS1 deficiency","DiseaseID__c":"GARD:0017696","id":17696,"encodedName":"combined-immunodeficiency-due-to-ctps1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Combined immunodeficiency due to CTPS1 deficiency","Xref_IDs__c":"763623001; C4014617; DOID:0111938; MEDGEN:863054; MONDO:0014391; OMIM:615897; ORPHA:420573","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0014391","Disease_Description__c":"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.","GARD_Name__c":"Combined immunodeficiency due to CTPS1 deficiency","GARD_Synonym__c":"ctps1-related combined immunodeficiency; immunodeficiency 24; immunodeficiency type 24; scid due to ctps1 deficiency; severe combined immunodeficiency due to ctps1 deficiency","Curated_Disease_Description_Source__c":"MONDO:0014391","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:420573","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014391","ORPHANET_ID__c":"ORPHA:420573","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave una deficiencia de ctps1","Spanish_Description_Source__c":"ORPHA:420573","Spanish_Description__c":"Es una inmunodeficiencia primaria poco frecuente debida a la alteración de la capacidad de las células T y B de proliferar en respuesta a la activación mediada por el receptor antigénico. Se caracteriza por un inicio temprano de infecciones víricas graves, persistentes y recurrentes, por el virus de Epstein-Barr (EBV) y el virus varicella zóster (VZV, incluyendo la varicela generalizada), así como de infecciones bacterianas sinopulmonares recurrentes por patógenos encapsulados.","Spanish_Disease_Name__c":"inmunodeficiencia combinada grave una deficiencia de ctps1","Spanish_GARD_Synonym__c":"idcg por deficiencia de ctps1; scid por deficiencia de ctps1","Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0014391","GARD_Synonym__c":"ctps1-related combined immunodeficiency; immunodeficiency 24; immunodeficiency type 24; scid due to ctps1 deficiency; severe combined immunodeficiency due to ctps1 deficiency","Name":"Combined immunodeficiency due to CTPS1 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:420573"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:420573"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:420573"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/420573","Source__c":"C4014617; MONDO:0014391","Xref__c":"ORPHA:420573"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763623001","Source__c":"MONDO:0014391","Xref__c":"763623001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863054","Source__c":"C4014617","Xref__c":"MEDGEN:863054"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4014617","Source__c":"C4014617","Xref__c":"C4014617"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111938","Source__c":"MONDO:0014391","Xref__c":"DOID:0111938"},{"URL__c":"https://www.omim.org/entry/615897","Source__c":"C4014617; MONDO:0014391; ORPHA:420573","Xref__c":"OMIM:615897"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014391","Source__c":"GARD:0017696","Xref__c":"MONDO:0014391"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTPS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410297","HPO_Name__c":"Partial absence of specific antibody response to tetanus vaccine","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033222","HPO_Synonym__c":"Decreased CD4:CD8 ratio; Inverted CD4/CD8 ratio","HPO_Name__c":"Inverted CD4:CD8 ratio","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","Feature__r":{"HPO_Description__c":"A reduced number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001888","HPO_Synonym__c":"Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia","HPO_Name__c":"Decreased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030374","HPO_Name__c":"Decreased proportion of memory B cells","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012476","HPO_Synonym__c":"Low pneumococcal antibody titer; Specific pneumococcal antibody deficiency","HPO_Name__c":"Decreased specific pneumococcal antibody level","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032170","HPO_Name__c":"Severe varicella zoster infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000039","HPO_Synonym__c":"Reduced mucosal-associated invariant T cell proportion; Reduced proportion of mucosal-associated invariant T cells","HPO_Name__c":"Decreased mucosal-associated invariant T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","Feature__r":{"HPO_Description__c":"An unusually severe viral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031691","HPO_Name__c":"Severe viral infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008348","HPO_Synonym__c":"Decreased circulating IgG2 level; Decreased IgG2 level in blood; Immunoglobulin IgG2 deficiency; Reduced IgG2 levels","HPO_Name__c":"Decreased circulating IgG2 concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005523","HPO_Name__c":"Lymphoproliferative disorder","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032248","HPO_Name__c":"Persistent viremia","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031402","HPO_Synonym__c":"Antigen-specific T cell proliferation defect; Impaired activated T cell proliferation; Impaired Ag-specific T cell proliferation","HPO_Name__c":"Reduced antigen-specific T cell proliferation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An infection of the upper or lower respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011947","HPO_Synonym__c":"Respiratory infection; Respiratory tract infection","HPO_Name__c":"Respiratory tract infection","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004429","HPO_Name__c":"Recurrent viral infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031379","HPO_Synonym__c":"Defective T cell proliferation","HPO_Name__c":"Abnormal T cell proliferation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["ctps1-related combined immunodeficiency"," immunodeficiency 24"," immunodeficiency type 24"," scid due to ctps1 deficiency"," severe combined immunodeficiency due to ctps1 deficiency"]}