{"Name":"Autoimmune lymphoproliferative syndrome type 2B","DiseaseID__c":"GARD:0009796","id":9796,"encodedName":"autoimmune-lymphoproliferative-syndrome-type-2b","IsDeleted":false,"Disease_Name_Full__c":"Autoimmune lymphoproliferative syndrome type 2B","Xref_IDs__c":"722290008; C1846545; DOID:0110116; MEDGEN:339548; MONDO:0011804; OMIM:607271; ORPHA:275517","USA_Estimate__c":"1,000","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":"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":1,"Description_Source__c":"MONDO:0011804","Disease_Description__c":"A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.","GARD_Name__c":"Autoimmune lymphoproliferative syndrome type 2B","GARD_Synonym__c":"alps with recurrent viral infections; alps2b; autoimmune lymphoproliferative syndrome caused by mutation in casp8; autoimmune lymphoproliferative syndrome type iib; autoimmune lymphoproliferative syndrome with recurrent viral infection; autoimmune lymphoproliferative syndrome with recurrent viral infections; autoimmune lymphoproliferative syndrome, type iib; casp8 autoimmune lymphoproliferative syndrome; caspase 8 deficiency; caspase 8 deficiency syndrome; caspase eight deficiency state; ceds","Curated_Disease_Description_Source__c":"MONDO:0011804","Curated_Disease_Description__c":"A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:275517","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011804","ORPHANET_ID__c":"ORPHA:275517","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome linfoproliferativo autoinmune-infecciones virales recurrentes por deficiencia de casp8","Spanish_Description_Source__c":"ORPHA:275517","Spanish_Description__c":"Es un trastorno de origen genético poco frecuente caracterizado por linfadenopatía y/o esplenomegalia e infecciones recurrentes debido al virus del herpes.","Spanish_Disease_Name__c":"síndrome linfoproliferativo autoinmune-infecciones virales recurrentes por deficiencia de casp8","Spanish_GARD_Synonym__c":"slpa-infecciones virales recurrentes por deficiencia de casp8; síndrome de deficiencia de caspasa 8; síndrome linfoproliferativo autoinmune-infecciones virales recurrentes por deficiencia de caspasa 8","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 genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.","Curated_Disease_Description_Source__c":"MONDO:0011804","GARD_Synonym__c":"alps with recurrent viral infections; alps2b; autoimmune lymphoproliferative syndrome caused by mutation in casp8; autoimmune lymphoproliferative syndrome type iib; autoimmune lymphoproliferative syndrome with recurrent viral infection; autoimmune lymphoproliferative syndrome with recurrent viral infections; autoimmune lymphoproliferative syndrome, type iib; casp8 autoimmune lymphoproliferative syndrome; caspase 8 deficiency; caspase 8 deficiency syndrome; caspase eight deficiency state; ceds","Name":"Autoimmune lymphoproliferative syndrome type 2B","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":"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":"Childhood","Provided_By__c":"ORPHA:275517"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009796","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=339548","Source__c":"C1846545","Xref__c":"MEDGEN:339548"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846545","Source__c":"C1846545","Xref__c":"C1846545"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110116","Source__c":"MONDO:0011804","Xref__c":"DOID:0110116"},{"URL__c":"https://www.orpha.net/en/disease/detail/275517","Source__c":"C1846545; MONDO:0011804; ORPHA:275517","Xref__c":"ORPHA:275517"},{"URL__c":"https://www.omim.org/entry/607271","Source__c":"C1846545; MONDO:0011804; ORPHA:275517","Xref__c":"OMIM:607271"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722290008","Source__c":"C1846545; MONDO:0011804","Xref__c":"722290008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011804","Source__c":"GARD:0009796","Xref__c":"MONDO:0011804"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CASP8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005353","HPO_Synonym__c":"Susceptibility to herpesvirus","HPO_Name__c":"Recurrent herpes","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607271","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":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:607271","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":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","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:607271","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410300","HPO_Name__c":"Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005419","HPO_Synonym__c":"Decreased T lymphocyte activation; Decreased T-cell activation; Decreased T-lymphocyte activation; Defective T cell activation; Profound depletion of T4+ lymphocytes","HPO_Name__c":"Decreased T cell activation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607271","HPO_Frequency__c":"Frequent (30-79%)","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:607271","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005384","HPO_Name__c":"Defective B cell activation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033278","HPO_Name__c":"Reduced CD95-induced lymphocyte apoptosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","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:607271","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005425","HPO_Synonym__c":"Chronic sinopulmonary infection; Recurrent sinus and lung infections","HPO_Name__c":"Recurrent sinopulmonary infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607271","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":"OMIM:607271","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["alps with recurrent viral infections"," alps2b"," autoimmune lymphoproliferative syndrome caused by mutation in casp8"," autoimmune lymphoproliferative syndrome type iib"," autoimmune lymphoproliferative syndrome with recurrent viral infection"," autoimmune lymphoproliferative syndrome with recurrent viral infections"," autoimmune lymphoproliferative syndrome, type iib"," casp8 autoimmune lymphoproliferative syndrome"," caspase 8 deficiency"," caspase 8 deficiency syndrome"," caspase eight deficiency state"," ceds"]}