{"Name":"Severe combined immunodeficiency due to CD70 deficiency","DiseaseID__c":"GARD:0017978","id":17978,"encodedName":"severe-combined-immunodeficiency-due-to-cd70-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Severe combined immunodeficiency due to CD70 deficiency","Xref_IDs__c":"C168591; C5568559; MEDGEN:1799982; MONDO:0034054; OMIM:618261; ORPHA:538958","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:538958","Disease_Description__c":"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.","GARD_Name__c":"Severe combined immunodeficiency due to CD70 deficiency","GARD_Synonym__c":"cd70 deficiency; cid due to cd70 deficiency; combined immunodeficiency due to cd70 deficiency; lymphoproliferative syndrome 3","Curated_Disease_Description_Source__c":"ORPHA:538958","Curated_Disease_Description__c":"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:538958","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0034054","ORPHANET_ID__c":"ORPHA:538958","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada por deficiencia de cd70","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia combinada por deficiencia de cd70","Spanish_GARD_Synonym__c":"cid por deficiencia de cd70; idc por deficiencia de cd70","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 autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.","Curated_Disease_Description_Source__c":"ORPHA:538958","GARD_Synonym__c":"cd70 deficiency; cid due to cd70 deficiency; combined immunodeficiency due to cd70 deficiency; lymphoproliferative syndrome 3","Name":"Severe combined immunodeficiency due to CD70 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":"Childhood","Provided_By__c":"ORPHA:538958"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:538958"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799982","Source__c":"C5568559","Xref__c":"MEDGEN:1799982"},{"URL__c":"https://www.orpha.net/en/disease/detail/538958","Source__c":"C5568559; MONDO:0034054; ORPHA:538958","Xref__c":"ORPHA:538958"},{"URL__c":"https://www.omim.org/entry/618261","Source__c":"C5568559; MONDO:0034054; ORPHA:538958","Xref__c":"OMIM:618261"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568559","Source__c":"C5568559","Xref__c":"C5568559"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186715006","Source__c":"C5568559","Xref__c":"1186715006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0034054","Source__c":"GARD:0017978","Xref__c":"MONDO:0034054"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C168591","Source__c":"C5568559","Xref__c":"C168591"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CD70","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:618261","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:618261","HPO_Frequency__c":"Frequent (30-79%)","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:618261","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040218","HPO_Synonym__c":"Reduced natural killer cell number; Reduced NK cell number","HPO_Name__c":"Reduced total natural killer cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618261","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:618261","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Periodic (episodic or recurrent) bouts of fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001954","HPO_Synonym__c":"Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever","HPO_Name__c":"Recurrent fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618261","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:618261","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012189","HPO_Synonym__c":"Hodgkin disease; Hodgkin's lymphoma","HPO_Name__c":"Hodgkin lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618261","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:618261","HPO_Frequency__c":"Occasional (5-29%)","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:618261","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cd70 deficiency"," cid due to cd70 deficiency"," combined immunodeficiency due to cd70 deficiency"," lymphoproliferative syndrome 3"]}