{"Name":"Combined immunodeficiency due to CD3gamma deficiency","DiseaseID__c":"GARD:0017046","id":17046,"encodedName":"combined-immunodeficiency-due-to-cd3gamma-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Combined immunodeficiency due to CD3gamma deficiency","Xref_IDs__c":"725135004; C3810107; DOID:0060018; DOID:0111973; MEDGEN:816437; MONDO:0014276; OMIM:615607; ORPHA:169082","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":1,"Description_Source__c":"MONDO:0014276","Disease_Description__c":"A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.","GARD_Name__c":"Combined immunodeficiency due to CD3gamma deficiency","GARD_Synonym__c":"cd3 deficiency; cd3-gamma deficiency; cd3gamma deficiency; imd17; immunodeficiency 17; immunodeficiency 17, cd3 gamma deficient; immunodeficiency type 17; scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive","Curated_Disease_Description_Source__c":"MONDO:0014276","Curated_Disease_Description__c":"A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:169082","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014276","ORPHANET_ID__c":"ORPHA:169082","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada por deficiencia de cd3gamma","Spanish_Description_Source__c":"ORPHA:169082","Spanish_Description__c":"Es una inmunodeficiencia primaria autosómica recesiva poco frecuente caracterizada por linfopenia parcial de células T (en particular células CD8+ citotóxicas) y expresión disminuida del complejo receptor de células T (TCR)/CD3 con alteración de la respuesta proliferativa a estímulos dependientes de TCR, mientras que el conjunto de células T de memoria maduras está comparativamente bien conservado, y las células B, las células asesinas naturales y las inmunoglobulinas son habitualmente normales. El fenotipo clínico es altamente heterogéneo, desde asintomático hasta la aparición de infecciones graves recurrentes en el periodo de lactancia, así como de enfermedad autoinmune o enteropatía.","Spanish_Disease_Name__c":"inmunodeficiencia combinada por deficiencia de cd3gamma","Spanish_GARD_Synonym__c":null,"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 partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.","Curated_Disease_Description_Source__c":"MONDO:0014276","GARD_Synonym__c":"cd3 deficiency; cd3-gamma deficiency; cd3gamma deficiency; imd17; immunodeficiency 17; immunodeficiency 17, cd3 gamma deficient; immunodeficiency type 17; scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive","Name":"Combined immunodeficiency due to CD3gamma deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.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:169082"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/615607","Source__c":"C3810107; MONDO:0014276; ORPHA:169082","Xref__c":"OMIM:615607"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111973","Source__c":"MONDO:0014276","Xref__c":"DOID:0111973"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060018","Source__c":"MONDO:0014276","Xref__c":"DOID:0060018"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810107","Source__c":"C3810107","Xref__c":"C3810107"},{"URL__c":"https://www.orpha.net/en/disease/detail/169082","Source__c":"C3810107; MONDO:0014276","Xref__c":"ORPHA:169082"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816437","Source__c":"C3810107","Xref__c":"MEDGEN:816437"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725135004","Source__c":"MONDO:0014276","Xref__c":"725135004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014276","Source__c":"GARD:0017046","Xref__c":"MONDO:0014276"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CD3G","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615607","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":"OMIM:615607","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615607","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615607","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615607","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005218","HPO_Name__c":"Anoperineal fistula","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615607","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lasting decrease of immunoglobulin G2 (IgG2) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0041063","HPO_Synonym__c":"Chronic decreased IgG2 in blood","HPO_Name__c":"Chronic decreased circulating IgG2","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615607","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":"OMIM:615607","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002242","HPO_Synonym__c":"Abnormality of the intestine; Enteropathy","HPO_Name__c":"Abnormal intestine morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615607","Feature__r":{"HPO_Description__c":"Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005415","HPO_Synonym__c":"CD8+ T-cell lymphopenia; Decreased proportion of CD8+ T cells; Decreased proportion of CD8-positive T cells; Decreased proportion of CD8-positive, alpha-beta T cells","HPO_Name__c":"Decreased CD8+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615607","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615607","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":"OMIM:615607","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615607","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":"OMIM:615607","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","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":["cd3 deficiency"," cd3-gamma deficiency"," cd3gamma deficiency"," imd17"," immunodeficiency 17"," immunodeficiency 17, cd3 gamma deficient"," immunodeficiency type 17"," scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive"]}