{"Name":"Hyper-IgM syndrome type 3","DiseaseID__c":"GARD:0010579","id":10579,"encodedName":"hyper-igm-syndrome-type-3","IsDeleted":false,"Disease_Name_Full__c":"Hyper-IgM syndrome type 3","Xref_IDs__c":"C1720957; C176416; DOID:0060023; MEDGEN:328419; MONDO:0011735; OMIM:606843; ORPHA:101090","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011735","Disease_Description__c":"A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.","GARD_Name__c":"Hyper-IgM syndrome type 3","GARD_Synonym__c":"autosomal recessive combined immunodeficiency due to cd40 mutation; cd40 hyper-igm syndrome; higm3; higm3 - hyperimmunoglobulin m syndrome type 3; hyper-igm immunodeficiency syndrome, type 3; hyper-igm syndrome caused by mutation in cd40; hyper-igm syndrome due to cd40 deficiency; hyperimmunoglobulin m syndrome type 3; immunodeficiency with hyper-igm type 3; type 3 hyper-igm immunodeficiency","Curated_Disease_Description_Source__c":"MONDO:11735","Curated_Disease_Description__c":"A form of hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101090","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011735","ORPHANET_ID__c":"ORPHA:101090","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiper-igm tipo 3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hiper-igm tipo 3","Spanish_GARD_Synonym__c":"higm3; síndrome de hiper-igm por deficiencia de cd40","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 form of hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.","Curated_Disease_Description_Source__c":"MONDO:11735","GARD_Synonym__c":"autosomal recessive combined immunodeficiency due to cd40 mutation; cd40 hyper-igm syndrome; higm3; higm3 - hyperimmunoglobulin m syndrome type 3; hyper-igm immunodeficiency syndrome, type 3; hyper-igm syndrome caused by mutation in cd40; hyper-igm syndrome due to cd40 deficiency; hyperimmunoglobulin m syndrome type 3; immunodeficiency with hyper-igm type 3; type 3 hyper-igm immunodeficiency","Name":"Hyper-IgM syndrome type 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hyper IgM Foundation","Website__c":"https://hyperigm.org/"},{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010579","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=328419","Source__c":"C1720957","Xref__c":"MEDGEN:328419"},{"URL__c":"https://www.orpha.net/en/disease/detail/101090","Source__c":"C1720957; MONDO:0011735; ORPHA:101090","Xref__c":"ORPHA:101090"},{"URL__c":"https://www.omim.org/entry/606843","Source__c":"C1720957; MONDO:0011735; ORPHA:101090","Xref__c":"OMIM:606843"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1720957","Source__c":"C1720957","Xref__c":"C1720957"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060023","Source__c":"MONDO:0011735","Xref__c":"DOID:0060023"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176416","Source__c":"C1720957","Xref__c":"C176416"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011735","Source__c":"GARD:0010579","Xref__c":"MONDO:0011735"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1362020006","Source__c":"C1720957","Xref__c":"1362020006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CD40","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:606843","Feature__r":{"HPO_Description__c":"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002849","HPO_Synonym__c":"Lymph nodes lack germinal center; Lymphoid germinal center defect","HPO_Name__c":"Absence of lymph node germinal center","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606843","Feature__r":{"HPO_Description__c":"An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002959","HPO_Synonym__c":"Impaired B-lymphocyte isotype switching","HPO_Name__c":"Impaired Ig class switch recombination","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606843","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:606843","Feature__r":{"HPO_Description__c":"Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002847","HPO_Name__c":"Impaired memory B cell generation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606843","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606843","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:606843","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606843","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin M in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003496","HPO_Synonym__c":"Increased IgM levels; Increased levels of IgM","HPO_Name__c":"Increased circulating IgM level","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606843","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin E (IgE) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005479","HPO_Synonym__c":"Decreased circulating IgE; Decreased IgE; IgE deficiency","HPO_Name__c":"Decreased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606843","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["autosomal recessive combined immunodeficiency due to cd40 mutation"," cd40 hyper-igm syndrome"," higm3"," higm3 - hyperimmunoglobulin m syndrome type 3"," hyper-igm immunodeficiency syndrome, type 3"," hyper-igm syndrome caused by mutation in cd40"," hyper-igm syndrome due to cd40 deficiency"," hyperimmunoglobulin m syndrome type 3"," immunodeficiency with hyper-igm type 3"," type 3 hyper-igm immunodeficiency"]}