{"Name":"Severe combined immunodeficiency due to DCLRE1C deficiency","DiseaseID__c":"GARD:0009987","id":9987,"encodedName":"severe-combined-immunodeficiency-due-to-dclre1c-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Severe combined immunodeficiency due to DCLRE1C deficiency","Xref_IDs__c":"715982006; C1865370; DOID:0090012; MEDGEN:355454; MONDO:0011225; OMIM:602450; ORPHA:275","USA_Estimate__c":null,"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":null,"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:0011225","Disease_Description__c":"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.","GARD_Name__c":"Severe combined immunodeficiency due to DCLRE1C deficiency","GARD_Synonym__c":"dclre1c severe combined immunodeficiency (disease); rs-scid; scid due to artemis deficiency; scid due to dclre1c deficiency; scid, athabascan type; scid, athabaskan type; scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation; severe combined immunodeficiency (disease) caused by mutation in dclre1c; severe combined immunodeficiency due to artemis deficiency; severe combined immunodeficiency, athabascan type; severe combined immunodeficiency, athabaskan type","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Severe combined immunodeficiency due to DCLRE1C deficiency is a rare disease that affects the immune system. It can cause severe and frequent infections, diarrhea, difficulty growing, and sensitivity to radiation. People with this condition have a hard time fighting off infections and may need special treatment to stay healthy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:275","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011225","ORPHANET_ID__c":"ORPHA:275","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave por deficiencia de dclre1c","Spanish_Description_Source__c":"ORPHA:275","Spanish_Description__c":"La inmunodeficiencia combinada grave (IDCG) por déficit de DCLRE1C es un tipo de IDCG (consulta este término) caracterizada por infecciones graves y recurrentes, diarrea, retraso en el crecimiento, y sensibilidad celular a la radiación ionizante.","Spanish_Disease_Name__c":"inmunodeficiencia combinada grave por deficiencia de dclre1c","Spanish_GARD_Synonym__c":"idcg por deficiencia de artemis; idcg por deficiencia de dclre1c; idcg tipo athabascan; idcg tipo athabaskan; inmunodeficiencia combinada grave por deficiencia de artemis; inmunodeficiencia combinada grave tipo athabascan; inmunodeficiencia combinada grave tipo athabaskan; insensibilidad congénita al dolor; scid por deficiencia de artemis; scid por deficiencia de dclre1c; scid tipo athabascan; scid tipo athabaskan","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 DCLRE1C deficiency is a rare disease that affects the immune system. It can cause severe and frequent infections, diarrhea, difficulty growing, and sensitivity to radiation. People with this condition have a hard time fighting off infections and may need special treatment to stay healthy.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"dclre1c severe combined immunodeficiency (disease); rs-scid; scid due to artemis deficiency; scid due to dclre1c deficiency; scid, athabascan type; scid, athabaskan type; scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation; severe combined immunodeficiency (disease) caused by mutation in dclre1c; severe combined immunodeficiency due to artemis deficiency; severe combined immunodeficiency, athabascan type; severe combined immunodeficiency, athabaskan type","Name":"Severe combined immunodeficiency due to DCLRE1C deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"United States Immunodeficiency Network","Website__c":"https://www.usidnet.org"},{"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:275"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:275"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/SCID"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009987","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/275","Source__c":"C1865370; MONDO:0011225","Xref__c":"ORPHA:275"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355454","Source__c":"C1865370","Xref__c":"MEDGEN:355454"},{"URL__c":"https://www.omim.org/entry/602450","Source__c":"C1865370; MONDO:0011225","Xref__c":"OMIM:602450"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715982006","Source__c":"MONDO:0011225","Xref__c":"715982006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090012","Source__c":"MONDO:0011225","Xref__c":"DOID:0090012"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865370","Source__c":"C1865370","Xref__c":"C1865370"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011225","Source__c":"GARD:0009987","Xref__c":"MONDO:0011225"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DCLRE1C","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200043","HPO_Synonym__c":"Warts","HPO_Name__c":"Verrucae","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005681","HPO_Synonym__c":"Juvenile idiopathic arthritis; Juvenile RA; Rheumatoid arthritis, juvenile","HPO_Name__c":"Juvenile rheumatoid arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200117","HPO_Name__c":"Recurrent upper and lower respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation or infection of the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000388","HPO_Synonym__c":"Middle ear infection","HPO_Name__c":"Otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009098","HPO_Synonym__c":"Chronic oral thrush","HPO_Name__c":"Chronic oral candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011107","HPO_Synonym__c":"Recurrent canker sores; Recurrent oral aphthae","HPO_Name__c":"Recurrent aphthous stomatitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001045","HPO_Synonym__c":"Blotchy loss of skin color","HPO_Name__c":"Vitiligo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005390","HPO_Synonym__c":"Frequent opportunistic infections","HPO_Name__c":"Recurrent opportunistic infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A chronic, autoimmune type of thyroiditis associated with hypothyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000872","HPO_Synonym__c":"Chronic lymphocytic thyroiditis; Hashimoto's thyroiditis","HPO_Name__c":"Hashimoto thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011274","HPO_Name__c":"Recurrent mycobacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031123","HPO_Name__c":"Recurrent gastroenteritis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","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":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031292","HPO_Synonym__c":"Skin abscess","HPO_Name__c":"Cutaneous abscess","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002041","HPO_Name__c":"Intractable diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000070","HPO_Name__c":"Cutaneous granuloma","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:275","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An autoimmune form of hemolytic anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001890","HPO_Synonym__c":"Autoimmune haemolytic anemia; Hemolytic anemia, autoimmune","HPO_Name__c":"Autoimmune hemolytic anemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010976","HPO_Synonym__c":"B cell deficiency; B cell lymphopenia; B lymphocytopenia; Decreased B cell count; Low B cell count; Reduction in B cell number","HPO_Name__c":"Decreased total B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:275","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["dclre1c severe combined immunodeficiency (disease)"," rs-scid"," scid due to artemis deficiency"," scid due to dclre1c deficiency"," scid, athabascan type"," scid, athabaskan type"," scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation"," severe combined immunodeficiency (disease) caused by mutation in dclre1c"," severe combined immunodeficiency due to artemis deficiency"," severe combined immunodeficiency, athabascan type"," severe combined immunodeficiency, athabaskan type"]}