{"Name":"Transient hypogammaglobulinemia of infancy","DiseaseID__c":"GARD:0020112","id":20112,"encodedName":"transient-hypogammaglobulinemia-of-infancy","IsDeleted":false,"Disease_Name_Full__c":"Transient hypogammaglobulinemia of infancy","Xref_IDs__c":"88714009; C0272238; C27071; D80.7; DOID:624; HP:0005432; MEDGEN:124421; MONDO:0015698; ORPHA:169139","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":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015698","Disease_Description__c":"A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.","GARD_Name__c":"Transient hypogammaglobulinemia of infancy","GARD_Synonym__c":"immunoglobulin maturational delay; newborn gammaglobulin deficiency; thi; thi - transient hypogammaglobulinemia of infancy","Curated_Disease_Description_Source__c":"ORPHA:169139","Curated_Disease_Description__c":"A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:169139","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015698","ORPHANET_ID__c":"ORPHA:169139","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipogammaglobulinemia transitoria del lactante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipogammaglobulinemia transitoria del lactante","Spanish_GARD_Synonym__c":null,"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 primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.","Curated_Disease_Description_Source__c":"ORPHA:169139","GARD_Synonym__c":"immunoglobulin maturational delay; newborn gammaglobulin deficiency; thi; thi - transient hypogammaglobulinemia of infancy","Name":"Transient hypogammaglobulinemia of infancy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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":"http://purl.bioontology.org/ontology/ICD10CM/D80.7","Source__c":"MONDO:0015698","Xref__c":"D80.7"},{"URL__c":"https://www.orpha.net/en/disease/detail/169139","Source__c":"C0272238; MONDO:0015698; ORPHA:169139","Xref__c":"ORPHA:169139"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272238","Source__c":"C0272238","Xref__c":"C0272238"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124421","Source__c":"C0272238","Xref__c":"MEDGEN:124421"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27071","Source__c":"C0272238; MONDO:0015698","Xref__c":"C27071"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A624","Source__c":"MONDO:0015698","Xref__c":"DOID:624"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=88714009","Source__c":"C0272238; MONDO:0015698","Xref__c":"88714009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015698","Source__c":"GARD:0020112","Xref__c":"MONDO:0015698"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005432","Source__c":"C0272238","Xref__c":"HP:0005432"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["immunoglobulin maturational delay"," newborn gammaglobulin deficiency"," thi"," thi - transient hypogammaglobulinemia of infancy"]}