{"Name":"Severe combined immunodeficiency disease","DiseaseID__c":"GARD:0007628","id":7628,"encodedName":"severe-combined-immunodeficiency-disease","IsDeleted":false,"Disease_Name_Full__c":"Severe combined immunodeficiency disease","Xref_IDs__c":"31323000; 423022983; C0085110; C3472; D016511; DOID:627; MEDGEN:88328; MONDO:0015974; ORPHA:183660","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015974","Disease_Description__c":"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.","GARD_Name__c":"Severe combined immunodeficiency disease","GARD_Synonym__c":"combined t and b cell inborn immunodeficiency; combined t-cell and b-cell immunodeficiency; immunodeficiency, severe combined; scid; scid - severe combined immunodeficiency; severe combined immune deficiency; severe combined immunodeficiency; severe combined immunodeficiency (disease)","Curated_Disease_Description_Source__c":"GARD:0007628","Curated_Disease_Description__c":"Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, children with SCID do not grow and gain weight as expected (failure to thrive). SCID may be caused by genetic changes in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most common type of SCID is called X-linked Severe combined immunodeficiency (XSCID). Another form of SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:183660","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015974","ORPHANET_ID__c":"ORPHA:183660","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave","Spanish_Description_Source__c":"ORPHA:183660","Spanish_Description__c":"La inmunodeficiencia combinada grave (IDCG) engloba un grupo de inmunodeficiencias primarias monogénicas poco frecuentes caracterizadas por la falta de linfocitos T periféricos funcionales lo que provoca infecciones respiratorias graves de aparición temprana y retraso del crecimiento. Se clasifican de acuerdo al fenotipo inmunológico en: IDCG con ausencia de células T pero presencia de células B (IDCG T-B+) o IDCG con ausencia de ambos (IDCG T-B-). Ambos grupos incluyen diversas formas, con o sin células NK.","Spanish_Disease_Name__c":"inmunodeficiencia combinada grave","Spanish_GARD_Synonym__c":"idcg; scid","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":"Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, children with SCID do not grow and gain weight as expected (failure to thrive). SCID may be caused by genetic changes in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most common type of SCID is called X-linked Severe combined immunodeficiency (XSCID). Another form of SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA).","Curated_Disease_Description_Source__c":"GARD:0007628","GARD_Synonym__c":"combined t and b cell inborn immunodeficiency; combined t-cell and b-cell immunodeficiency; immunodeficiency, severe combined; scid; scid - severe combined immunodeficiency; severe combined immune deficiency; severe combined immunodeficiency; severe combined immunodeficiency (disease)","Name":"Severe combined immunodeficiency disease","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SCID Angels For Life Foundation","Website__c":"https://www.scidangelsforlife.com/"},{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.org/"},{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"SCID Foundation","Website__c":"https://www.scidfoundation.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"Account_Name__c":"United States Immunodeficiency Network","Website__c":"https://www.usidnet.org"},{"Account_Name__c":"Canadian Immunodeficiencies Patient Organization","Website__c":"http://www.cipo.ca/"},{"Account_Name__c":"Immune Deficiencies Foundation Australia","Website__c":"http://www.idfa.org.au/"}],"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:183660"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:183660"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/SCID"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0085110"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085110","Source__c":"C0085110","Xref__c":"C0085110"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016511","Source__c":"C0085110; MONDO:0015974","Xref__c":"D016511"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A627","Source__c":"MONDO:0015974","Xref__c":"DOID:627"},{"URL__c":"https://www.orpha.net/en/disease/detail/183660","Source__c":"C0085110; MONDO:0015974; ORPHA:183660","Xref__c":"ORPHA:183660"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=88328","Source__c":"C0085110","Xref__c":"MEDGEN:88328"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=31323000","Source__c":"C0085110; MONDO:0015974","Xref__c":"31323000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3472","Source__c":"C0085110; MONDO:0015974","Xref__c":"C3472"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004430","Source__c":"C0085110","Xref__c":"HP:0004430"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015974","Source__c":"GARD:0007628","Xref__c":"MONDO:0015974"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022983","Xref__c":"423022983"},{"URL__c":"https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency"}],"Inheritance__c":["Autosomal recessive","X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["combined t and b cell inborn immunodeficiency"," combined t-cell and b-cell immunodeficiency"," immunodeficiency, severe combined"," scid"," scid - severe combined immunodeficiency"," severe combined immune deficiency"," severe combined immunodeficiency"," severe combined immunodeficiency (disease)"],"spanishId":13312,"spanishName":"inmunodeficiencia-combinada-grave"}