{"Name":"Severe combined immunodeficiency due to CARD11 deficiency","DiseaseID__c":"GARD:0017549","id":17549,"encodedName":"severe-combined-immunodeficiency-due-to-card11-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Severe combined immunodeficiency due to CARD11 deficiency","Xref_IDs__c":"C3554686; DOID:0111957; MEDGEN:767600; MONDO:0014081; OMIM:615206; ORPHA:357237","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014081","Disease_Description__c":"Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.","GARD_Name__c":"Severe combined immunodeficiency due to CARD11 deficiency","GARD_Synonym__c":"imd11a; immunodeficiency 11; immunodeficiency 11a; immunodeficiency type 11; scid due to card11 deficiency","Curated_Disease_Description_Source__c":"MONDO:0014081","Curated_Disease_Description__c":"Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:357237","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014081","ORPHANET_ID__c":"ORPHA:357237","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada por deficiencia de card11","Spanish_Description_Source__c":"ORPHA:357237","Spanish_Description__c":"La inmunodeficiencia combinada grave por deficiencia de CARD11 es una inmunodeficiencia combinada de células T y B poco frecuente, caracterizada por valores normales de linfocitos T y B, un incremento del número de células B transicionales, hipo- / agammaglobulinemia, disminución del número de células T reguladoras y defectos de función de las células T. Presenta una susceptibilidad grave a infecciones, incluyendo infecciones oportunistas.","Spanish_Disease_Name__c":"inmunodeficiencia combinada por deficiencia de card11","Spanish_GARD_Synonym__c":"idc por deficiencia de card11; inmunodeficiencia combinada por deficiencia del miembro 11 de la familia del dominio de reclutamiento de caspasas","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 immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.","Curated_Disease_Description_Source__c":"MONDO:0014081","GARD_Synonym__c":"imd11a; immunodeficiency 11; immunodeficiency 11a; immunodeficiency type 11; scid due to card11 deficiency","Name":"Severe combined immunodeficiency due to CARD11 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":"Neonatal","Provided_By__c":"ORPHA:357237"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:357237"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111957","Source__c":"MONDO:0014081","Xref__c":"DOID:0111957"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554686","Source__c":"C3554686","Xref__c":"C3554686"},{"URL__c":"https://www.orpha.net/en/disease/detail/357237","Source__c":"C3554686; MONDO:0014081","Xref__c":"ORPHA:357237"},{"URL__c":"https://www.omim.org/entry/615206","Source__c":"C3554686; MONDO:0014081; ORPHA:357237","Xref__c":"OMIM:615206"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767600","Source__c":"C3554686","Xref__c":"MEDGEN:767600"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014081","Source__c":"GARD:0017549","Xref__c":"MONDO:0014081"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CARD11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/card11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615206","HPO_Frequency__c":"Very frequent (80-99%)","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:615206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004432","HPO_Synonym__c":"Agammaglobulinaemia","HPO_Name__c":"Agammaglobulinemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ 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:0020113","HPO_Synonym__c":"Decreased proportion of CD4+CD25+ regulatory T cells; Decreased proportion of CD4+CD25+ Treg cells; Decreased proportion of regulatory T cells; Reduced proportion of CD4+CD25+ regulatory T cells","HPO_Name__c":"Decreased regulatory T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020102","HPO_Synonym__c":"Pneumocystis carinii pneumonia","HPO_Name__c":"Pneumocystis jirovecii pneumonia","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615206","HPO_Frequency__c":"Very frequent (80-99%)","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:615206","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:615206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012312","HPO_Synonym__c":"Low blood monocyte number; Monocytopenia","HPO_Name__c":"Decreased total monocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["imd11a"," immunodeficiency 11"," immunodeficiency 11a"," immunodeficiency type 11"," scid due to card11 deficiency"]}