{"Name":"Idiopathic CD4 lymphocytopenia","DiseaseID__c":"GARD:0012375","id":12375,"encodedName":"idiopathic-cd4-lymphocytopenia","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic CD4 lymphocytopenia","Xref_IDs__c":"763713000; C3809768; DOID:0111987; MEDGEN:816098; MONDO:0014226; OMIM:615518; ORPHA:228000","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014226","Disease_Description__c":"Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.","GARD_Name__c":"Idiopathic CD4 lymphocytopenia","GARD_Synonym__c":"idiopathic cd4 lymphopenia; immunodeficiency 13; immunodeficiency type 13","Curated_Disease_Description_Source__c":"GARD:0012375","Curated_Disease_Description__c":"Idiopathic CD4 positive T-lymphocytopenia (ICL) is a rare disorder of the immune system. People with ICL have low levels of a type of white blood cell, called a CD4+ T cell. These low levels can not be explained by other causes of immunodeficiency, including HIV infection. T cells have many jobs in our immune system, such as attacking bacteria and viruses. CD4 is a protein found on the surface of many different cells within your immune system. It lets the different cells of your immune system work with each other. When CD4+ T cells are decreased, your body becomes more prone to infection. Signs and Symptoms of ICL vary. Some people have no symptoms, however most have illnesses suggestive of a lowered immune system, including infections (varicella-zoster virus, human papilloma virus), autoimmune disorders (autoimmune hemolytic anemia, lupus), and certain types of cancer (non-Hodgkin lymphoma). A few people with ICL are found to carry specific genetic changes; however, for most cases of ICL the underlying cause is not known.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:228000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014226","ORPHANET_ID__c":"ORPHA:228000","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfocitopenia cd4 idiopática","Spanish_Description_Source__c":"ORPHA:228000","Spanish_Description__c":"La linfocitopenia CD4 idiopática es una inmunodeficiencia primaria poco frecuente caracterizada por linfopenia persistente de las células T CD4 (menos de 300 células/µL en muchos casos) no asociada a otra inmunodeficiencia primaria o secundaria subyacente. Típicamente, los afectados presentan infecciones oportunistas (con infecciones criptocócicas, micobacterianas, por cándida, por el virus varicela-zóster y siendo la leucoencefalopatía multifocal progresiva la más prevalente), malignidades (principalmente trastornos linfoproliferativos) o trastornos autoinmunes. Algunos individuos son asintomáticos y diagnosticados de manera accidental.","Spanish_Disease_Name__c":"linfocitopenia cd4 idiopática","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":"Idiopathic CD4 positive T-lymphocytopenia (ICL) is a rare disorder of the immune system. People with ICL have low levels of a type of white blood cell, called a CD4+ T cell. These low levels can not be explained by other causes of immunodeficiency, including HIV infection. T cells have many jobs in our immune system, such as attacking bacteria and viruses. CD4 is a protein found on the surface of many different cells within your immune system. It lets the different cells of your immune system work with each other. When CD4+ T cells are decreased, your body becomes more prone to infection. Signs and Symptoms of ICL vary. Some people have no symptoms, however most have illnesses suggestive of a lowered immune system, including infections (varicella-zoster virus, human papilloma virus), autoimmune disorders (autoimmune hemolytic anemia, lupus), and certain types of cancer (non-Hodgkin lymphoma). A few people with ICL are found to carry specific genetic changes; however, for most cases of ICL the underlying cause is not known.","Curated_Disease_Description_Source__c":"GARD:0012375","GARD_Synonym__c":"idiopathic cd4 lymphopenia; immunodeficiency 13; immunodeficiency type 13","Name":"Idiopathic CD4 lymphocytopenia","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:228000"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3809768"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012375","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/228000","Source__c":"C3809768; MONDO:0014226","Xref__c":"ORPHA:228000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111987","Source__c":"MONDO:0014226","Xref__c":"DOID:0111987"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816098","Source__c":"C3809768","Xref__c":"MEDGEN:816098"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763713000","Source__c":"MONDO:0014226","Xref__c":"763713000"},{"URL__c":"https://www.omim.org/entry/615518","Source__c":"C3809768; MONDO:0014226; ORPHA:228000","Xref__c":"OMIM:615518"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809768","Source__c":"C3809768","Xref__c":"C3809768"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014226","Source__c":"GARD:0012375","Xref__c":"MONDO:0014226"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UNC119","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615518","Feature__r":{"HPO_Description__c":"Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011945","HPO_Synonym__c":"BOOP; Cryptogenic organizing pneumonia","HPO_Name__c":"Bronchiolitis obliterans organizing pneumonia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615518","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:615518","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100582","HPO_Synonym__c":"Nasal polyps; Polyposis nasi; Polyps of nose","HPO_Name__c":"Nasal polyposis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615518","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615518","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:615518","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615518","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032275","HPO_Name__c":"Recurrent shingles","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615518","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615518","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":"OMIM:615518","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615518","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":"OMIM:615518","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033222","HPO_Synonym__c":"Decreased CD4:CD8 ratio; Inverted CD4/CD8 ratio","HPO_Name__c":"Inverted CD4:CD8 ratio","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615518","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A recurrent form of sinusitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011108","HPO_Synonym__c":"Recurrent sinus infections; Sinusitis, recurrent","HPO_Name__c":"Recurrent sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615518","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of helper CD3+CD4+ 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:0032218","HPO_Synonym__c":"CD4 T cell lymphopenia; Decreased helper T cell proportion; Decreased proportion circulating T-helper cells; Decreased proportion of CD4+ cells; Decreased proportion of CD4+ T cells; Decreased proportion of CD4-positive helper T cells; Decreased proportion of CD4-positive T cells; Decreased proportion of CD4-positive, alpha-beta T cells; Reduced helper T cell proportion; Reduced proportion of CD4-positive cells","HPO_Name__c":"Decreased CD4+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["idiopathic cd4 lymphopenia"," immunodeficiency 13"," immunodeficiency type 13"]}