{"Name":"Severe combined immunodeficiency due to LAT deficiency","DiseaseID__c":"GARD:0017938","id":17938,"encodedName":"severe-combined-immunodeficiency-due-to-lat-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Severe combined immunodeficiency due to LAT deficiency","Xref_IDs__c":"1179284005; C4479588; DOID:0111983; MEDGEN:1384124; MONDO:0044721; OMIM:617514; ORPHA:504523","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:504523","Disease_Description__c":"A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.","GARD_Name__c":"Severe combined immunodeficiency due to LAT deficiency","GARD_Synonym__c":"immunodeficiency 52; scid due to lat deficiency; severe combined immunodeficiency due to lat (linker for activation of t cells) deficiency; severe combined immunodeficiency due to linker for activation of t cells deficiency","Curated_Disease_Description_Source__c":"ORPHA:504523","Curated_Disease_Description__c":"A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:504523","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044721","ORPHANET_ID__c":"ORPHA:504523","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave por deficiencia de lat","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia combinada grave por deficiencia de lat","Spanish_GARD_Synonym__c":"idcg por deficiencia de lat; scid por deficiencia de lat","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 severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.","Curated_Disease_Description_Source__c":"ORPHA:504523","GARD_Synonym__c":"immunodeficiency 52; scid due to lat deficiency; severe combined immunodeficiency due to lat (linker for activation of t cells) deficiency; severe combined immunodeficiency due to linker for activation of t cells deficiency","Name":"Severe combined immunodeficiency due to LAT 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":"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":"Infancy","Provided_By__c":"ORPHA:504523"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111983","Source__c":"MONDO:0044721","Xref__c":"DOID:0111983"},{"URL__c":"https://www.orpha.net/en/disease/detail/504523","Source__c":"C4479588; MONDO:0044721; ORPHA:504523","Xref__c":"ORPHA:504523"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1384124","Source__c":"C4479588","Xref__c":"MEDGEN:1384124"},{"URL__c":"https://www.omim.org/entry/617514","Source__c":"C4479588; MONDO:0044721; ORPHA:504523","Xref__c":"OMIM:617514"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4479588","Source__c":"C4479588","Xref__c":"C4479588"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044721","Source__c":"GARD:0017938","Xref__c":"MONDO:0044721"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1179284005","Source__c":"C4479588","Xref__c":"1179284005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LAT","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increase of TCR gamma/delta positive T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500270","HPO_Synonym__c":"Elevated proportion of gamma-delta T cells; Increased proportion of gamma-delta T lymphocytes; Increased proportion of gamma-delta T-cells; Increased proportion of gamma-delta T-lymphocytes; Increased proportion of gammadelta T cells","HPO_Name__c":"Increased gamma-delta T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of T cells per volume is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005403","HPO_Synonym__c":"Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells; T cell lymphopenia; T lymphocytopenia","HPO_Name__c":"Decreased total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","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:617514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hemolytic anemia in which the Coombs test is positive.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004844","HPO_Synonym__c":"Direct Coombs positive","HPO_Name__c":"Coombs-positive hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006528","HPO_Synonym__c":"Chronic lung disease","HPO_Name__c":"Chronic lung disease","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001973","HPO_Synonym__c":"Idiopathic thrombocytopenia; Immune thrombocytopenia","HPO_Name__c":"Autoimmune thrombocytopenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent presence of Epstein-Barr virus in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020072","HPO_Name__c":"Persistent EBV viremia","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:617514","Feature__r":{"HPO_Description__c":"Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002958","HPO_Synonym__c":"Immune dysregulation; Unregulated immune response","HPO_Name__c":"Immune dysregulation","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032247","HPO_Name__c":"Persistent CMV viremia","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032218","HPO_Synonym__c":"CD4 T cell lymphopenia; Decreased helper T cell proportion; Decreased proportion circulating T-helper cells; Decreased proportion of CD4+ cells; Decreased proportion of CD4+ T cells; Decreased proportion of CD4-positive helper T cells; Decreased proportion of CD4-positive T cells; Decreased proportion of CD4-positive, alpha-beta T cells; Reduced helper T cell proportion; Reduced proportion of CD4-positive cells","HPO_Name__c":"Decreased CD4+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617514","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:617514","HPO_Frequency__c":"Very frequent (80-99%)","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":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["immunodeficiency 52"," scid due to lat deficiency"," severe combined immunodeficiency due to lat (linker for activation of t cells) deficiency"," severe combined immunodeficiency due to linker for activation of t cells deficiency"]}