{"Name":"T-lymphocyte deficiency","DiseaseID__c":"GARD:0007201","id":7201,"encodedName":"t-lymphocyte-deficiency","IsDeleted":false,"Disease_Name_Full__c":"T-lymphocyte deficiency","Xref_IDs__c":"55602000; C0152094; C536288; D81.4; DOID:2012; MEDGEN:101814; MONDO:0009451; OMIM:242700; ORPHA:83471","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":"ORPHA:83471","Disease_Description__c":"A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.","GARD_Name__c":"T-lymphocyte deficiency","GARD_Synonym__c":"congenital thymic dysplasia syndrome; immune defect due to absence of thymus; nezelof syndrome; nezelof's syndrome; thymic aplasia","Curated_Disease_Description_Source__c":"ORPHA:83471","Curated_Disease_Description__c":"A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.","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:83471","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009451","ORPHANET_ID__c":"ORPHA:83471","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia de células t con aplasia tímica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia de células t con aplasia tímica","Spanish_GARD_Synonym__c":"aplasia/hipoplasia aislada del timo; aplasia/hipoplasia tímica congénita aislada; atimia congénita aislada; defecto tímico aislado debido a aplasia/hipoplasia del timo; síndrome de nezelof","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 primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.","Curated_Disease_Description_Source__c":"ORPHA:83471","GARD_Synonym__c":"congenital thymic dysplasia syndrome; immune defect due to absence of thymus; nezelof syndrome; nezelof's syndrome; thymic aplasia","Name":"T-lymphocyte 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:83471"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:83471"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0152094","Source__c":"C0152094","Xref__c":"C0152094"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=55602000","Source__c":"C0152094; MONDO:0009451","Xref__c":"55602000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2012","Source__c":"MONDO:0009451","Xref__c":"DOID:2012"},{"URL__c":"https://www.orpha.net/en/disease/detail/83471","Source__c":"C0152094; MONDO:0009451; ORPHA:83471","Xref__c":"ORPHA:83471"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=101814","Source__c":"C0152094","Xref__c":"MEDGEN:101814"},{"URL__c":"https://www.omim.org/entry/242700","Source__c":"C0152094; MONDO:0009451; ORPHA:83471","Xref__c":"OMIM:242700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536288","Source__c":"MONDO:0009451","Xref__c":"C536288"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009451","Source__c":"GARD:0007201","Xref__c":"MONDO:0009451"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D81.4","Source__c":"MONDO:0009451","Xref__c":"D81.4"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/foxn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","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:83471","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005359","HPO_Synonym__c":"Absent thymus; Athymia","HPO_Name__c":"Aplasia of the thymus","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032169","HPO_Synonym__c":"Unusual course of infection","HPO_Name__c":"Severe infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Frequent (30-79%)","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:83471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unusually severe viral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031691","HPO_Name__c":"Severe viral infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased proportion of naive T cells relative to the total number of T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031397","HPO_Synonym__c":"Decreased proportion of naive T cells; Decreased proportion of naive thymus-derived, alpha-beta T cells; Reduced proportion of naive T cells","HPO_Name__c":"Decreased naive T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002726","HPO_Synonym__c":"Staphylococcus aureus infections, recurrent","HPO_Name__c":"Recurrent Staphylococcus aureus infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200122","HPO_Synonym__c":"Atypical or prolonged liver inflammation","HPO_Name__c":"Atypical or prolonged hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005401","HPO_Synonym__c":"Frequent candida infections","HPO_Name__c":"Recurrent candida infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","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:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000389","HPO_Synonym__c":"Chronic infections of the middle ear; Otitis media, chronic","HPO_Name__c":"Chronic otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","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:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","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:83471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031690","HPO_Name__c":"Opportunistic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","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:83471","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; 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Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the meninges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001287","HPO_Name__c":"Meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031430","HPO_Name__c":"Oligoclonal T cell expansion","Feature_System__c":"Immune System; 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Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","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:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003472","HPO_Name__c":"Hypocalcemic tetany","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83471","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005352","HPO_Synonym__c":"Severe T-cell immunodeficiency","HPO_Name__c":"Severe T-cell immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["congenital thymic dysplasia syndrome"," immune defect due to absence of thymus"," nezelof syndrome"," nezelof's syndrome"," thymic aplasia"]}