{"Name":"X-linked lymphoproliferative disease due to XIAP deficiency","DiseaseID__c":"GARD:0010916","id":10916,"encodedName":"x-linked-lymphoproliferative-disease-due-to-xiap-deficiency","IsDeleted":false,"Disease_Name_Full__c":"X-linked lymphoproliferative disease due to XIAP deficiency","Xref_IDs__c":"1162830004; C126295; C1845076; C564469; DOID:0060706; MEDGEN:336848; MONDO:0010385; OMIM:300635; ORPHA:538934","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Description_Source__c":"MONDO:0010385","Disease_Description__c":"A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.","GARD_Name__c":"X-linked lymphoproliferative disease due to XIAP deficiency","GARD_Synonym__c":"lymphoproliferative syndrome, x-linked, 2, x-linked recessive; lymphoproliferative syndrome, x-linked, type 2; x-linked lymphoproliferative syndrome type 2; xiap deficiency; xiap deficiency syndrome; xiap deficiency/xlps; xlp2","Curated_Disease_Description_Source__c":"MEDGEN:C1845076","Curated_Disease_Description__c":"X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:538934","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010385","ORPHANET_ID__c":"ORPHA:538934","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad linfoproliferativa ligada al cromosoma x por deficiencia de xiap","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad linfoproliferativa ligada al cromosoma x por deficiencia de xiap","Spanish_GARD_Synonym__c":"síndrome de deficiencia de xiap; síndrome linfoproliferativo ligado al x tipo 2; xlp2","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":"X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.","Curated_Disease_Description_Source__c":"MEDGEN:C1845076","GARD_Synonym__c":"lymphoproliferative syndrome, x-linked, 2, x-linked recessive; lymphoproliferative syndrome, x-linked, type 2; x-linked lymphoproliferative syndrome type 2; xiap deficiency; xiap deficiency syndrome; xiap deficiency/xlps; xlp2","Name":"X-linked lymphoproliferative disease due to XIAP deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"Account_Name__c":"Autoinflammatory Alliance","Website__c":"https://www.autoinflammatory.org/"},{"Account_Name__c":"XLP Research Trust","Website__c":"https://www.xlpresearchtrust.org/"},{"Account_Name__c":"Immune Deficiencies Foundation Australia","Website__c":"http://www.idfa.org.au/"}],"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":"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:538934"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:538934"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:538934"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:538934"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1845076"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010916","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1406","Source__c":"Gene Review","Xref__c":"NBK1406"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845076","Source__c":"C1845076","Xref__c":"C1845076"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060706","Source__c":"MONDO:0010385","Xref__c":"DOID:0060706"},{"URL__c":"https://www.orpha.net/en/disease/detail/538934","Source__c":"C1845076; MONDO:0010385; ORPHA:538934","Xref__c":"ORPHA:538934"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336848","Source__c":"C1845076","Xref__c":"MEDGEN:336848"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126295","Source__c":"C1845076; MONDO:0010385","Xref__c":"C126295"},{"URL__c":"https://www.omim.org/entry/300635","Source__c":"C1845076; MONDO:0010385; ORPHA:538934","Xref__c":"OMIM:300635"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564469","Source__c":"MONDO:0010385","Xref__c":"C564469"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162830004","Source__c":"C1845076","Xref__c":"1162830004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010385","Source__c":"GARD:0010916","Xref__c":"MONDO:0010385"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"XIAP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/xiap","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002583","HPO_Name__c":"Colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","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:538934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034799","HPO_Synonym__c":"Spleen hemophagocytosis","HPO_Name__c":"Splenic hemophagocytosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030151","HPO_Synonym__c":"Bile duct inflammation","HPO_Name__c":"Cholangitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012219","HPO_Name__c":"Erythema nodosum","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","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:538934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005229","HPO_Name__c":"Jejunoileal ulceration","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Periodic (episodic or recurrent) bouts of fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001954","HPO_Synonym__c":"Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever","HPO_Name__c":"Recurrent fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of one or all portions of the uveal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000554","HPO_Name__c":"Uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031292","HPO_Synonym__c":"Skin abscess","HPO_Name__c":"Cutaneous abscess","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Frequent (30-79%)","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:538934","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:538934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unusually severe Epstein Barr virus (EBV) infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031693","HPO_Synonym__c":"Fulminant infectious mononucleosis; Severe EBV infection","HPO_Name__c":"Severe Epstein Barr virus infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","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:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040218","HPO_Synonym__c":"Reduced natural killer cell number; Reduced NK cell number","HPO_Name__c":"Reduced total natural killer cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:538934","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Immunology","Gastroenterology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["lymphoproliferative syndrome, x-linked, 2, x-linked recessive"," lymphoproliferative syndrome, x-linked, type 2"," x-linked lymphoproliferative syndrome type 2"," xiap deficiency"," xiap deficiency syndrome"," xiap deficiency/xlps"," xlp2"]}