{"Name":"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency","DiseaseID__c":"GARD:0012316","id":12316,"encodedName":"autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsufficiency","IsDeleted":false,"Disease_Name_Full__c":"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency","Xref_IDs__c":"1197361002; C126341; C4015214; MEDGEN:863651; MONDO:0014493; OMIM:616100; ORPHA:436159","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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":3,"Description_Source__c":"MONDO:0014493","Disease_Description__c":"A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.","GARD_Name__c":"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency","GARD_Synonym__c":"alps due to ctla4 haploinsufficiency; alps due to ctla4 haploinsuffiency; alps type 5; alps type v; autoimmune lymphoproliferative syndrome 5; autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency; autoimmune lymphoproliferative syndrome due to cytotoxic t-lymphocyte associated protein 4 haploinsufficiency; autoimmune lymphoproliferative syndrome type 5; autoimmune lymphoproliferative syndrome type v; chai; ctla-4 haploinsufficiency with autoimmune infiltration disease; ctla4 haploinsufficiency; ctla4 haploinsufficiency with autoimmune infiltration; immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation","Curated_Disease_Description_Source__c":"MONDO:0014493","Curated_Disease_Description__c":"A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:436159","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014493","ORPHANET_ID__c":"ORPHA:436159","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome linfoproliferativo autoinmune por haploinsuficiencia de ctla4","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome linfoproliferativo autoinmune por haploinsuficiencia de ctla4","Spanish_GARD_Synonym__c":"alps por una haploinsuficiencia ctla4; chai; haploinsuficiencia ctla-4 con enfermedad de infiltración autoinmune","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 somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.","Curated_Disease_Description_Source__c":"MONDO:0014493","GARD_Synonym__c":"alps due to ctla4 haploinsufficiency; alps due to ctla4 haploinsuffiency; alps type 5; alps type v; autoimmune lymphoproliferative syndrome 5; autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency; autoimmune lymphoproliferative syndrome due to cytotoxic t-lymphocyte associated protein 4 haploinsufficiency; autoimmune lymphoproliferative syndrome type 5; autoimmune lymphoproliferative syndrome type v; chai; ctla-4 haploinsufficiency with autoimmune infiltration disease; ctla4 haploinsufficiency; ctla4 haploinsufficiency with autoimmune infiltration; immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation","Name":"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Adult","Provided_By__c":"ORPHA:436159"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:436159"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:436159"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4015214"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012316","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015214","Source__c":"C4015214","Xref__c":"C4015214"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126341","Source__c":"C4015214; MONDO:0014493","Xref__c":"C126341"},{"URL__c":"https://www.omim.org/entry/616100","Source__c":"C4015214; MONDO:0014493; ORPHA:436159","Xref__c":"OMIM:616100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863651","Source__c":"C4015214","Xref__c":"MEDGEN:863651"},{"URL__c":"https://www.orpha.net/en/disease/detail/436159","Source__c":"C4015214; MONDO:0014493; ORPHA:436159","Xref__c":"ORPHA:436159"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197361002","Source__c":"C4015214","Xref__c":"1197361002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014493","Source__c":"GARD:0012316","Xref__c":"MONDO:0014493"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTLA4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:436159","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; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001973","HPO_Synonym__c":"Idiopathic thrombocytopenia; Immune thrombocytopenia","HPO_Name__c":"Autoimmune thrombocytopenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","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:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012410","HPO_Synonym__c":"Red cell aplasia","HPO_Name__c":"Pure red cell aplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100653","HPO_Name__c":"Optic neuritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","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:436159","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:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","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:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002582","HPO_Synonym__c":"Chronic atrophic gastritis","HPO_Name__c":"Atrophic gastritis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","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":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","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:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100280","HPO_Synonym__c":"Granulomatous enteritis and colitis; Morbus Crohn","HPO_Name__c":"Crohn's disease","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032216","HPO_Name__c":"Lymphocytic infiltration of the colorectal mucosa","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation, or an inflammatory state in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002037","HPO_Synonym__c":"Inflammation of the large intestine","HPO_Name__c":"Inflammation of the large intestine","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001047","HPO_Synonym__c":"Allergic eczema; Atopic dermatitis, chronic; Atopic eczema; Dermatitis, Atopic; Infantile eczema; Neurodermatitis; Prurigo Besnier","HPO_Name__c":"Atopic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100646","HPO_Synonym__c":"Thyroid gland inflammation","HPO_Name__c":"Thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","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:436159","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:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001904","HPO_Synonym__c":"Neutropenia in presence of anti-neutropil antibodies","HPO_Name__c":"Autoimmune neutropenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002665","HPO_Synonym__c":"Cancer of lymphatic system","HPO_Name__c":"Lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:436159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002783","HPO_Synonym__c":"Chronic lung infections; Lower respiratory tract infections; Recurrent chest infections","HPO_Name__c":"Recurrent lower respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Gastroenterology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["alps due to ctla4 haploinsufficiency"," alps due to ctla4 haploinsuffiency"," alps type 5"," alps type v"," autoimmune lymphoproliferative syndrome 5"," autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency"," autoimmune lymphoproliferative syndrome due to cytotoxic t-lymphocyte associated protein 4 haploinsufficiency"," autoimmune lymphoproliferative syndrome type 5"," autoimmune lymphoproliferative syndrome type v"," chai"," ctla-4 haploinsufficiency with autoimmune infiltration disease"," ctla4 haploinsufficiency"," ctla4 haploinsufficiency with autoimmune infiltration"," immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation"]}