{"Name":"T-B+ severe combined immunodeficiency due to JAK3 deficiency","DiseaseID__c":"GARD:0016632","id":16632,"encodedName":"t-b-severe-combined-immunodeficiency-due-to-jak3-deficiency","IsDeleted":false,"Disease_Name_Full__c":"T-B+ severe combined immunodeficiency due to JAK3 deficiency","Xref_IDs__c":"718107000; C176807; C1833275; C563440; MEDGEN:331474; MONDO:0010938; OMIM:600802; ORPHA:35078","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010938","Disease_Description__c":"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.","GARD_Name__c":"T-B+ severe combined immunodeficiency due to JAK3 deficiency","GARD_Synonym__c":"scid, autosomal recessive, t-negative/b-positive type; scid, t cell-negative, b cell-positive, nk cell-negative; severe combined immunodeficiency t-cell negative b-cell positive due to janus kinase-3 deficiency; t-b+ scid due to jak3 deficiency; t-cell negative b-cell positive severe combined immunodeficiency due to jak3 deficiency","Curated_Disease_Description_Source__c":"ORPHA:35078","Curated_Disease_Description__c":"JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.","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:35078","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010938","ORPHANET_ID__c":"ORPHA:35078","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave t-b+ por deficiencia de jak3","Spanish_Description_Source__c":"ORPHA:35078","Spanish_Description__c":"La inmunodeficiencia combinada grave (IDCG) T- B+ por déficit de JAK3 es una forma de IDCG (consulte este término), caracterizada por infecciones graves y recurrentes, asociadas a diarrea y retraso en el crecimiento.","Spanish_Disease_Name__c":"inmunodeficiencia combinada grave t-b+ por deficiencia de jak3","Spanish_GARD_Synonym__c":"idcg t-b+ por deficiencia de jak3; scid t-b+ por deficiencia de jak3","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":"JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.","Curated_Disease_Description_Source__c":"ORPHA:35078","GARD_Synonym__c":"scid, autosomal recessive, t-negative/b-positive type; scid, t cell-negative, b cell-positive, nk cell-negative; severe combined immunodeficiency t-cell negative b-cell positive due to janus kinase-3 deficiency; t-b+ scid due to jak3 deficiency; t-cell negative b-cell positive severe combined immunodeficiency due to jak3 deficiency","Name":"T-B+ severe combined immunodeficiency due to JAK3 deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.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":"Infancy","Provided_By__c":"ORPHA:35078"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:35078"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/35078","Source__c":"C1833275; MONDO:0010938; ORPHA:35078","Xref__c":"ORPHA:35078"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833275","Source__c":"C1833275","Xref__c":"C1833275"},{"URL__c":"https://www.omim.org/entry/600802","Source__c":"C1833275; MONDO:0010938; ORPHA:35078","Xref__c":"OMIM:600802"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331474","Source__c":"C1833275","Xref__c":"MEDGEN:331474"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563440","Source__c":"MONDO:0010938","Xref__c":"C563440"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718107000","Source__c":"C1833275; MONDO:0010938","Xref__c":"718107000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010938","Source__c":"GARD:0016632","Xref__c":"MONDO:0010938"},{"URL__c":"https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency","Source__c":"GARD:0016632","Xref__c":"https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176807","Source__c":"C1833275","Xref__c":"C176807"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"JAK3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/jak3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of detectable circulating NK cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040219","HPO_Synonym__c":"Absent NK cells","HPO_Name__c":"Absent natural killer cells","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Occasional (5-29%)","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:35078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a fistula between the vagina and the rectum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000143","HPO_Synonym__c":"Abnormal connection between rectum and vagina","HPO_Name__c":"Rectovaginal fistula","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011837","HPO_Name__c":"Partial IgA deficiency","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Occasional (5-29%)","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:35078","HPO_Frequency__c":"Very frequent (80-99%)","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:35078","HPO_Frequency__c":"Very frequent (80-99%)","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:35078","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:35078","HPO_Frequency__c":"Occasional (5-29%)","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:35078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acute otitis media is a short and generally painful infection of the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000371","HPO_Synonym__c":"Acute middle ear infection","HPO_Name__c":"Acute otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Occasional (5-29%)","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:35078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent infection of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004798","HPO_Synonym__c":"Recurrent gastrointestinal infections; Recurrent infection of the gastrointestinal tract; Recurrent infection of the GI tract","HPO_Name__c":"Recurrent infection of the gastrointestinal tract","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200039","HPO_Synonym__c":"Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules","HPO_Name__c":"Pustule","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003347","HPO_Name__c":"Impaired lymphocyte transformation with phytohemagglutinin","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35078","HPO_Frequency__c":"Uncommon (<1-4%)","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:35078","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:35078","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:35078","HPO_Frequency__c":"Uncommon (<1-4%)","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:35078","HPO_Frequency__c":"Very frequent (80-99%)","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:35078","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["scid, autosomal recessive, t-negative/b-positive type"," scid, t cell-negative, b cell-positive, nk cell-negative"," severe combined immunodeficiency t-cell negative b-cell positive due to janus kinase-3 deficiency"," t-b+ scid due to jak3 deficiency"," t-cell negative b-cell positive severe combined immunodeficiency due to jak3 deficiency"]}