Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":9,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":10,"sourceGroups":{"omim":0,"orphanet":0,"published":10}},"features":[{"hpoId":"HP:0040089","label":"Abnormal total natural killer cell count","primary":false},{"hpoId":"HP:0025615","label":"Abscess","primary":false},{"hpoId":"HP:0010976","label":"Decreased total B cell count","primary":false},{"hpoId":"HP:0005403","label":"Decreased total T cell count","primary":false},{"hpoId":"HP:0032434","label":"Delayed umbilical cord separation","primary":false},{"hpoId":"HP:0002840","label":"Lymphadenitis","primary":false},{"hpoId":"HP:0006946","label":"Recurrent meningitis","primary":false},{"hpoId":"HP:0001581","label":"Recurrent skin infections","primary":false},{"hpoId":"HP:0100806","label":"Sepsis","primary":false},{"hpoId":"HP:0003095","label":"Septic arthritis","primary":false}],"ledeHtml":"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.","mondoId":"MONDO:0012839","records":[{"frequencyKind":"count","key":"29e110f93f6198a68e1a5724582814c125e71572e2e90c2b78a47d2be10a7dc9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"1/9","hpo_id":"HP:0003095","is_excluded":false,"label":"Septic arthritis","onset_id":null,"reference":"PMID:18669862","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"499df608141c2353ffe686e932cdd8b629f922ad491fc54f2e7a12ecc75d504b","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0032434","is_excluded":false,"label":"Delayed umbilical cord separation","onset_id":"HP:0003577","reference":"PMID:31301515","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"555e05b1ed04cdd21dae2d2824a7b36b93cb2a25e960e1c5533f110af3a7e020","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"4/9","hpo_id":"HP:0025615","is_excluded":false,"label":"Abscess","onset_id":null,"reference":"PMID:18669862","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5b7b75989bfd4f084e4ab7548066b8186acaa0612901a861312641be1f9ba852","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0010976","is_excluded":false,"label":"Decreased total B cell count","onset_id":null,"reference":"PMID:21057262;PMID:31301515","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6a5c5d82020f9a808bd6f9d5620d206862f6ffdc03d609d7e163ffd2ba2dee79","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"1/9","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"PMID:18669862","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8e18663a389c8b6cad3edab97e04182f86004c039f60d8e346aa15b052ac3a76","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"0/7","hpo_id":"HP:0005403","is_excluded":true,"label":"Decreased total T cell count","onset_id":null,"reference":"PMID:21057262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c6097637c753a68fc9991cf57e8fe0b10a50c0abb2863bb1f8e011d87ce82d13","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"5/9","hpo_id":"HP:0006946","is_excluded":false,"label":"Recurrent meningitis","onset_id":null,"reference":"PMID:18669862","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cd10455b91960d9b1f976237774873f67b5c07a7639c96f4bdc8f9325b29da92","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"2/9","hpo_id":"HP:0001581","is_excluded":false,"label":"Recurrent skin infections","onset_id":null,"reference":"PMID:18669862","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e835af0a73f16fa5ea36e194f13a04239453b9e432c78386cffc71ba26e61c29","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":"0/7","hpo_id":"HP:0040089","is_excluded":true,"label":"Abnormal total natural killer cell count","onset_id":null,"reference":"PMID:21057262","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f3b03fc2a233d44bd04504ebc3984f9421ee7278642f61c053f226451e062a21","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:612260","disease_name":"Immunodeficiency 68","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002840","is_excluded":false,"label":"Lymphadenitis","onset_id":null,"reference":"PMID:18669862","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"MyD88 deficiency is caused by mutations in the MYD88 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection. The MyD88 protein is part of a signaling pathway that is involved in early recognition of pathogens and the initiation of inflammation to fight infection. This signaling pathway is part of the innate immune response.
Mutations in the MYD88 gene lead to the production of a nonfunctional protein or no protein at all. The loss of functional MyD88 protein prevents the immune system from triggering inflammation in response to pathogens that would normally help fight the infections. Because the early immune response is insufficient, bacterial infections occur often and become severe and invasive.
Researchers suggest that as the immune system matures, other systems compensate for the loss of MyD88 protein, accounting for the improvement in the condition that occurs by adolescence.
","key":"forms","title":"What causes MyD88 deficiency?"},{"bodyHtml":"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.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"myd88-deficiency","sourceDocuments":[{"name":"MyD88 deficiency","reviewed":"2015-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:36.571810+00:00","label":"Causes","pageSha256":"0106b7256f2015ff2058acbe3c2fb2d87c0c737837e822d5103afb2e06f63c20","sourceUrl":"https://medlineplus.gov/genetics/condition/myd88-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/myd88-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"MyD88 deficiency"},"schemaVersion":1}