{"Name":"Pyogenic bacterial infections due to MyD88 deficiency","DiseaseID__c":"GARD:0012638","id":12638,"encodedName":"pyogenic-bacterial-infections-due-to-myd88-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Pyogenic bacterial infections due to MyD88 deficiency","Xref_IDs__c":"C2677092; C567379; MEDGEN:383023; MONDO:0012839; OMIM:612260","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012839","Disease_Description__c":"Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.","GARD_Name__c":"Pyogenic bacterial infections due to MyD88 deficiency","GARD_Synonym__c":"imd68; immunodeficiency 68; myd88 deficiency; myd88d; pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88; pyogenic bacterial infection due to myd88 deficiency; pyogenic bacterial infections, recurrent, due to myd88 deficiency; recurrent pyogenic bacterial infections due to myd88 deficiency","Curated_Disease_Description_Source__c":"GARD:0012638","Curated_Disease_Description__c":"MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic bacteria causes the production of pus.) However, affected individuals have normal resistance to other common bacteria, viruses, fungi, and parasites. The most common infections in MyD88 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent by about age 10. Children with MyD88 deficiency develop invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the ears, nose, or throat. Although fever is a common reaction to bacterial infections, many people with MyD88 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:183713","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012839","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic bacteria causes the production of pus.) However, affected individuals have normal resistance to other common bacteria, viruses, fungi, and parasites. The most common infections in MyD88 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent by about age 10. Children with MyD88 deficiency develop invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the ears, nose, or throat. Although fever is a common reaction to bacterial infections, many people with MyD88 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.","Curated_Disease_Description_Source__c":"GARD:0012638","GARD_Synonym__c":"imd68; immunodeficiency 68; myd88 deficiency; myd88d; pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88; pyogenic bacterial infection due to myd88 deficiency; pyogenic bacterial infections, recurrent, due to myd88 deficiency; recurrent pyogenic bacterial infections due to myd88 deficiency","Name":"Pyogenic bacterial infections due to MyD88 deficiency","estimateUsa":""}],"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/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2677092"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012638","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567379","Source__c":"MONDO:0012839","Xref__c":"C567379"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383023","Source__c":"C2677092","Xref__c":"MEDGEN:383023"},{"URL__c":"https://www.omim.org/entry/612260","Source__c":"C2677092; MONDO:0012839","Xref__c":"OMIM:612260"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677092","Source__c":"C2677092","Xref__c":"C2677092"},{"URL__c":"https://medlineplus.gov/genetics/condition/myd88-deficiency","Source__c":"GARD:0012638","Xref__c":"https://medlineplus.gov/genetics/condition/myd88-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012839","Source__c":"GARD:0012638","Xref__c":"MONDO:0012839"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718232007","Source__c":"C2677092","Xref__c":"718232007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYD88","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myd88","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612260","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abscess is a localized collection of purulent material surrounded by inflammation and granulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025615","HPO_Name__c":"Abscess","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612260","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Separation of the umbilical cord occurs at an abnormally late timepoint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032434","HPO_Synonym__c":"Delayed separation of umbilical cord","HPO_Name__c":"Delayed umbilical cord separation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612260","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612260","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010976","HPO_Synonym__c":"B cell deficiency; B cell lymphopenia; B lymphocytopenia; Decreased B cell count; Low B cell count; Reduction in B cell number","HPO_Name__c":"Decreased total B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612260","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003095","HPO_Name__c":"Septic arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612260","Feature__r":{"HPO_Description__c":"Inflammation of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002840","HPO_Synonym__c":"Inflammation of the lymph nodes","HPO_Name__c":"Lymphadenitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612260","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006946","HPO_Name__c":"Recurrent meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612260","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["imd68"," immunodeficiency 68"," myd88 deficiency"," myd88d"," pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88"," pyogenic bacterial infection due to myd88 deficiency"," pyogenic bacterial infections, recurrent, due to myd88 deficiency"," recurrent pyogenic bacterial infections due to myd88 deficiency"]}