{"Name":"IL21-related infantile inflammatory bowel disease","DiseaseID__c":"GARD:0017852","id":17852,"encodedName":"il21-related-infantile-inflammatory-bowel-disease","IsDeleted":false,"Disease_Name_Full__c":"IL21-related infantile inflammatory bowel disease","Xref_IDs__c":"1173999006; C176801; C5567788; DOID:0081153; MEDGEN:1799211; MONDO:0014338; OMIM:615767; ORPHA:477661","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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:477661","Disease_Description__c":"A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.","GARD_Name__c":"IL21-related infantile inflammatory bowel disease","GARD_Synonym__c":"common variable immunodeficiency 11; il21 deficiency; il21-related infantile ibd; immunodeficiency, common variable, type 11; interleukin 21 related infantile inflammatory bowel disease","Curated_Disease_Description_Source__c":"ORPHA:477661","Curated_Disease_Description__c":"A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:477661","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014338","ORPHANET_ID__c":"ORPHA:477661","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad inflamatoria intestinal del lactante asociada al gen il21","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad inflamatoria intestinal del lactante asociada al gen il21","Spanish_GARD_Synonym__c":"eii del lactante asociada al gen il21","Category_Linearization__c":"ORPHA:97935","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 autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.","Curated_Disease_Description_Source__c":"ORPHA:477661","GARD_Synonym__c":"common variable immunodeficiency 11; il21 deficiency; il21-related infantile ibd; immunodeficiency, common variable, type 11; interleukin 21 related infantile inflammatory bowel disease","Name":"IL21-related infantile inflammatory bowel disease","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":"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":"Infancy","Provided_By__c":"ORPHA:477661"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/477661","Source__c":"C5567788; MONDO:0014338; ORPHA:477661","Xref__c":"ORPHA:477661"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799211","Source__c":"C5567788","Xref__c":"MEDGEN:1799211"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081153","Source__c":"MONDO:0014338","Xref__c":"DOID:0081153"},{"URL__c":"https://www.omim.org/entry/615767","Source__c":"C5567788; MONDO:0014338; ORPHA:477661","Xref__c":"OMIM:615767"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567788","Source__c":"C5567788","Xref__c":"C5567788"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176801","Source__c":"C5567788; MONDO:0014338","Xref__c":"C176801"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1173999006","Source__c":"C5567788","Xref__c":"1173999006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014338","Source__c":"GARD:0017852","Xref__c":"MONDO:0014338"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL21","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033343","HPO_Synonym__c":"Mucous diarrhea","HPO_Name__c":"Mucoid diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","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:615767","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the fingers (distal phalanges of the fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100759","HPO_Synonym__c":"Clubbed fingers; Clubbing (hands); Clubbing of fingers; Finger clubbing","HPO_Name__c":"Clubbing of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615767","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:615767","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032154","HPO_Synonym__c":"Canker sore","HPO_Name__c":"Aphthous ulcer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030388","HPO_Synonym__c":"Decreased proportion of CD19+CD27+IgD- cells; Decreased proportion of class-switched memory B cells","HPO_Name__c":"Decreased class-switched memory B cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615767","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Immunology","Gastroenterology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["common variable immunodeficiency 11"," il21 deficiency"," il21-related infantile ibd"," immunodeficiency, common variable, type 11"," interleukin 21 related infantile inflammatory bowel disease"]}