{"Name":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive","DiseaseID__c":"GARD:0010339","id":10339,"encodedName":"severe-combined-immunodeficiency-autosomal-recessive-t-cell-negative-b-cell-negative-nk-cell-positive","IsDeleted":false,"Disease_Name_Full__c":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive","Xref_IDs__c":"C1832322; C563311; DOID:0090013; MEDGEN:321935; MONDO:0011086; OMIM:601457; ORPHA:331206","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":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011086","Disease_Description__c":"Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.","GARD_Name__c":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive","GARD_Synonym__c":"scid due to complete rag1-2 deficiency; scid due to complete rag1/2 deficiency; scid, ar, t-cell negative, b-cell negative, nk cell-positive; scid, t cell-negative, b cell-negative, nk cell-positive; severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related; severe combined immunodeficiency due to complete rag1-2 deficiency; severe combined immunodeficiency due to complete rag1/2 deficiency; severe combined immunodeficiency, b cell-negative","Curated_Disease_Description_Source__c":"MONDO:0011086","Curated_Disease_Description__c":"Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:331206","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011086","ORPHANET_ID__c":"ORPHA:331206","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave por deficiencia completa de rag1/2","Spanish_Description_Source__c":"ORPHA:331206","Spanish_Description__c":"La inmunodeficiencia combinada grave por deficiencia completa de RAG1/2 es un trastorno genético de inmunodeficiencia combinada grave T-B poco frecuente, debido a mutaciones nulas en el gen activador de la recombinación (RAG) 1 y /o RAG2, que resulta en menos del 1% de la actividad recombinante normal de la región V (D) J. Los afectados presentan infecciones graves, recurrentes y potencialmente mortales, de inicio neonatal, por hongos oportunistas y microorganismos virales y bacterianos, así como erupciones cutáneas, diarrea crónica, fallo de medro y fiebre. Los trastornos inmunológicos incluyen linfopenia profunda de células T y B, recuentos normales de células NK e inmunoglobulinas séricas bajas o ausentes; algunos afectados pueden presentar eosinofilia.","Spanish_Disease_Name__c":"inmunodeficiencia combinada grave por deficiencia completa de rag1/2","Spanish_GARD_Synonym__c":"idcg por deficiencia completa de rag1/2; scid por deficiencia completa de rag1/2","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 complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.","Curated_Disease_Description_Source__c":"MONDO:0011086","GARD_Synonym__c":"scid due to complete rag1-2 deficiency; scid due to complete rag1/2 deficiency; scid, ar, t-cell negative, b-cell negative, nk cell-positive; scid, t cell-negative, b cell-negative, nk cell-positive; severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related; severe combined immunodeficiency due to complete rag1-2 deficiency; severe combined immunodeficiency due to complete rag1/2 deficiency; severe combined immunodeficiency, b cell-negative","Name":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"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:331206"}],"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:C1832322"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010339","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/601457","Source__c":"C1832322; MONDO:0011086; ORPHA:331206","Xref__c":"OMIM:601457"},{"URL__c":"https://www.orpha.net/en/disease/detail/331206","Source__c":"C1832322; MONDO:0011086","Xref__c":"ORPHA:331206"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090013","Source__c":"MONDO:0011086","Xref__c":"DOID:0090013"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321935","Source__c":"C1832322","Xref__c":"MEDGEN:321935"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563311","Source__c":"MONDO:0011086","Xref__c":"C563311"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832322","Source__c":"C1832322","Xref__c":"C1832322"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011086","Source__c":"GARD:0010339","Xref__c":"MONDO:0011086"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RAG1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rag1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAG2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rag2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Occasional (5-29%)","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:331206","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":"ORPHA:331206","HPO_Frequency__c":"Very frequent (80-99%)","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:331206","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Frequent (30-79%)","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:331206","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:331206","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased count of eosinophils in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001880","HPO_Synonym__c":"Eosinophilia; High blood eosinophil count; Increased eosinophil count","HPO_Name__c":"Increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002743","HPO_Name__c":"Recurrent enteroviral infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002841","HPO_Synonym__c":"Recurrent fungal infections","HPO_Name__c":"Recurrent fungal infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","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:331206","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":"ORPHA:331206","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:331206","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004385","HPO_Name__c":"Protracted diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031381","HPO_Synonym__c":"Decreased lymphocyte proliferation in response to mitogen; Reduced lymphocyte proliferation to mitogen","HPO_Name__c":"Decreased mitogen-induced T-cell proliferation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increase or decrease of total B cells or any deviation of the propoortion of a B cell subtype. B cells are commonly characterized as CD19+ or CD20+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010975","HPO_Synonym__c":"Abnormal number of B cells; Abnormal numbers of B cells; Abnormality of B cell count; Abnormality of B cell numbers","HPO_Name__c":"Abnormal B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increase or decrease of absolute number of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, per microlitre, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011839","HPO_Synonym__c":"Abnormal number of T cells; Abnormal T cell count; Abnormality of T cell number","HPO_Name__c":"Abnormal total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002840","HPO_Synonym__c":"Inflammation of the lymph nodes","HPO_Name__c":"Lymphadenitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","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":"ORPHA:331206","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:331206","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":"ORPHA:331206","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040089","HPO_Synonym__c":"Abnormal NK cell count; Abnormal number of natural killer cells; Abnormality of natural killer cell count","HPO_Name__c":"Abnormal total natural killer cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331206","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:331206","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:331206","HPO_Frequency__c":"Frequent (30-79%)","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":["scid due to complete rag1-2 deficiency"," scid due to complete rag1/2 deficiency"," scid, ar, t-cell negative, b-cell negative, nk cell-positive"," scid, t cell-negative, b cell-negative, nk cell-positive"," severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related"," severe combined immunodeficiency due to complete rag1-2 deficiency"," severe combined immunodeficiency due to complete rag1/2 deficiency"," severe combined immunodeficiency, b cell-negative"]}