{"Name":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency","DiseaseID__c":"GARD:0005748","id":5748,"encodedName":"severe-combined-immunodeficiency-autosomal-recessive-t-cell-negative-b-cell-negative-nk-cell-negative-due-to-adenosine-deaminase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency","Xref_IDs__c":"44940001; C0392607; C3962; C531816; DOID:5810; MEDGEN:95935; MONDO:0007064; OMIM:102700; ORPHA:277","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007064","Disease_Description__c":"Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.","GARD_Name__c":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency","GARD_Synonym__c":"ada; ada deficiency; ada-scid; adenosine deaminase deficiency; adenosine deaminase deficiency, partial, autosomal recessive, somatic mosaicism; adenosine deaminase deficient severe combined immunodeficiency; adenosine deaminase-deficient severe combined immunodeficiency disease (scid); scid (severe combined immunodeficiency) due to absent lymphoid stem cells; scid due to ada deficiency; scid due to ada deficiency, early-onset; scid due to adenosine deaminase deficiency; severe combined immunodeficiency due to absent lymphoid stem cells; severe combined immunodeficiency due to ada deficiency; severe combined immunodeficiency due to ada deficiency, autosomal recessive, somatic mosaicism; severe combined immunodeficiency due to adenosine deaminase deficiency; swiss type agammaglobulinemia","Curated_Disease_Description_Source__c":"GARD:0005748","Curated_Disease_Description__c":"Adenosine deaminase (ADA) deficiency is a disorder that affects the immune system. Specifically, ADA deficiency impairs the development and function of immune cells called lymphocytes. Lymphocytes are white blood cells that help the body fight infections. As a result, people with ADA deficiency often develop pneumonia, chronic diarrhea, and widespread skin rashes. Additional signs and symptoms of ADA deficiency include slow growth and developmental delays. About 80 percent of individuals with ADA deficiency also have severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be serious or life-threatening. These infections are often caused by \"opportunistic\" organisms that ordinarily do not cause illness in people with a normal immune system. People with ADA deficiency with SCID (ADA-SCID) typically develop health problems within the first 6 months of life. Without treatment, these babies usually do not survive past age 2. About 15 to 20 percent of people with ADA deficiency develop health problems that begin between 1 and 10 years of age (delayed onset) or in adulthood (late onset). In people with this form of ADA deficiency (known as delayed or late-onset combined immunodeficiency or ADA-CID), the immune deficiency tends to be less severe than in people with ADA-SCID. People with ADA-CID typically have recurrent upper respiratory and ear infections. Over time, affected individuals may develop chronic lung damage, malnutrition, and other health problems. In some individuals, ADA deficiency only impacts red blood cells. Since white blood cells are not affected, these individuals have normal immune systems. This form of the condition is known as partial ADA deficiency. Individuals with this form do not have any health problems related to the condition. They often only find out they have ADA deficiency when they undergo testing because of an affected relative or during a normal health screening.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:277","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007064","ORPHANET_ID__c":"ORPHA:277","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave por deficiencia de adenosina desaminasa","Spanish_Description_Source__c":"ORPHA:277","Spanish_Description__c":"La inmunodeficiencia combinada grave (IDCG, ver término) por déficit de adenosina desaminasa (ADA) es una forma de IDCG caracterizada por una linfopenia profunda y niveles muy bajos de todos los isotipos de inmunoglobulinas, que dan como resultado la aparición de infecciones oportunistas graves y recurrentes.","Spanish_Disease_Name__c":"inmunodeficiencia combinada grave por deficiencia de adenosina desaminasa","Spanish_GARD_Synonym__c":"deficiencia ada; idcg por deficiencia de adenosina desaminasa; scid por deficiencia de adenosina desaminasa","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":"Adenosine deaminase (ADA) deficiency is a disorder that affects the immune system. Specifically, ADA deficiency impairs the development and function of immune cells called lymphocytes. Lymphocytes are white blood cells that help the body fight infections. As a result, people with ADA deficiency often develop pneumonia, chronic diarrhea, and widespread skin rashes. Additional signs and symptoms of ADA deficiency include slow growth and developmental delays. About 80 percent of individuals with ADA deficiency also have severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be serious or life-threatening. These infections are often caused by \"opportunistic\" organisms that ordinarily do not cause illness in people with a normal immune system. People with ADA deficiency with SCID (ADA-SCID) typically develop health problems within the first 6 months of life. Without treatment, these babies usually do not survive past age 2. About 15 to 20 percent of people with ADA deficiency develop health problems that begin between 1 and 10 years of age (delayed onset) or in adulthood (late onset). In people with this form of ADA deficiency (known as delayed or late-onset combined immunodeficiency or ADA-CID), the immune deficiency tends to be less severe than in people with ADA-SCID. People with ADA-CID typically have recurrent upper respiratory and ear infections. Over time, affected individuals may develop chronic lung damage, malnutrition, and other health problems. In some individuals, ADA deficiency only impacts red blood cells. Since white blood cells are not affected, these individuals have normal immune systems. This form of the condition is known as partial ADA deficiency. Individuals with this form do not have any health problems related to the condition. They often only find out they have ADA deficiency when they undergo testing because of an affected relative or during a normal health screening.","Curated_Disease_Description_Source__c":"GARD:0005748","GARD_Synonym__c":"ada; ada deficiency; ada-scid; adenosine deaminase deficiency; adenosine deaminase deficiency, partial, autosomal recessive, somatic mosaicism; adenosine deaminase deficient severe combined immunodeficiency; adenosine deaminase-deficient severe combined immunodeficiency disease (scid); scid (severe combined immunodeficiency) due to absent lymphoid stem cells; scid due to ada deficiency; scid due to ada deficiency, early-onset; scid due to adenosine deaminase deficiency; severe combined immunodeficiency due to absent lymphoid stem cells; severe combined immunodeficiency due to ada deficiency; severe combined immunodeficiency due to ada deficiency, autosomal recessive, somatic mosaicism; severe combined immunodeficiency due to adenosine deaminase deficiency; swiss type agammaglobulinemia","Name":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"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/"},{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"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:277"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:277"}],"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:C0392607"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005748","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1483","Source__c":"Gene Review","Xref__c":"NBK1483"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5810","Source__c":"MONDO:0007064","Xref__c":"DOID:5810"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C531816","Source__c":"MONDO:0007064","Xref__c":"C531816"},{"URL__c":"https://www.omim.org/entry/102700","Source__c":"C0392607; MONDO:0007064; ORPHA:277","Xref__c":"OMIM:102700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44940001","Source__c":"MONDO:0007064","Xref__c":"44940001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3962","Source__c":"C0392607; MONDO:0007064","Xref__c":"C3962"},{"URL__c":"https://www.orpha.net/en/disease/detail/277","Source__c":"C0392607; MONDO:0007064; ORPHA:277","Xref__c":"ORPHA:277"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007064","Source__c":"GARD:0005748","Xref__c":"MONDO:0007064"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=95935","Source__c":"C0392607","Xref__c":"MEDGEN:95935"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=22406001","Source__c":"C0392607","Xref__c":"22406001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0392607","Source__c":"C0392607","Xref__c":"C0392607"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ada","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002849","HPO_Synonym__c":"Lymph nodes lack germinal center; Lymphoid germinal center defect","HPO_Name__c":"Absence of lymph node germinal center","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","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:277","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"}},{"Provided_By__c":"ORPHA:277","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:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete inability of T cells to perform their functions in cell-mediated immunity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005354","HPO_Synonym__c":"Lack of T cell function","HPO_Name__c":"Absent cellular immunity","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of observable tonsillar tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030813","HPO_Synonym__c":"Hypoplastic tonsils; Tonsillar hypoplasia","HPO_Name__c":"Absent tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An allergy is an immune response or reaction to substances that are usually not harmful.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012393","HPO_Synonym__c":"Allergy","HPO_Name__c":"Allergy","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005368","HPO_Synonym__c":"Defective humoral immunity","HPO_Name__c":"Abnormality of humoral immunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025379","HPO_Synonym__c":"Anti-TPO antibody positivity; Antimicrosomal antibodies; Antimicrosomal antibody positivity; TPOAbs","HPO_Name__c":"Anti-thyroid peroxidase antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000246","HPO_Synonym__c":"Sinus inflammation","HPO_Name__c":"Sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010444","HPO_Synonym__c":"Pulmonary incompetence; Pulmonary valve insufficiency; Pulmonary valve regurgitation; Puolmonary valve insufficiency","HPO_Name__c":"Pulmonic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011123","HPO_Synonym__c":"Abnormal tendency to infections of the skin; Inflammatory abnormality of the skin; Skin inflammation","HPO_Name__c":"Inflammatory abnormality of the skin","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:277","HPO_Frequency__c":"Frequent (30-79%)","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:277","HPO_Frequency__c":"Frequent (30-79%)","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:277","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["ada"," ada deficiency"," ada-scid"," adenosine deaminase deficiency"," adenosine deaminase deficiency, partial, autosomal recessive, somatic mosaicism"," adenosine deaminase deficient severe combined immunodeficiency"," adenosine deaminase-deficient severe combined immunodeficiency disease (scid)"," scid (severe combined immunodeficiency) due to absent lymphoid stem cells"," scid due to ada deficiency"," scid due to ada deficiency, early-onset"," scid due to adenosine deaminase deficiency"," severe combined immunodeficiency due to absent lymphoid stem cells"," severe combined immunodeficiency due to ada deficiency"," severe combined immunodeficiency due to ada deficiency, autosomal recessive, somatic mosaicism"," severe combined immunodeficiency due to adenosine deaminase deficiency"," swiss type agammaglobulinemia"]}