{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0010626/OMIM:308230","label":"Immunodeficiency, X-linked, with hyper-IgM","mondoId":"MONDO:0010626","onsetQualifier":null,"recordKeys":["071169994f525086dfb80a31ae5f67fd8af2023259293fdae4c29a5c6d2d8794","075e5978c63264ab81f97fd997caaf06de12a17c767223e7d1e7da510e1f11a6","0a476dd89d13c4c60e49004e70d2a20d70ba278e4a884eee33ccaeb65491358e","0e9d8b88102d9cba5c295242881284543752e986661aab9b4c71ab620f38fa1c","0ed2eeceb48d5bd412d506adf3832bac7848ad9a7422d946cefe5a144edf7c52","129c68c5df3a55c9a7770aad4a3754a1cc003958c49613aaf99cac07ae7f9a2d","152b2069358652296c394efdf1cd06ef148ad135c1531f577e1612dc43d06ed4","180dfa9b040df553ab6980d3dc5d550311716da99dc82e196aafef33d5be6b5d","1caf4959d863f0acdbf495dc7f5a5380bbf4b424947441665df54d8d85225600","1f4c571070d4807c26a9179168e55acbae242ee88f72f36c625346d4e761282f","2eaac21dc89f4c2d77deb407b1db3d31bb346806dbc375676dc95f200c27079b","31ff27b5aa49d207cc4aa661877244d5acb133aff51f3761a935a3f60f6c6d77","371a760987ce08f3a8e9ada7dad5b453d642892579ecc1cb45aaa58704766c8f","39f97d63ae22950a83a0efdfca93d329e3b641791fe4061c40432547504a3041","402d579d8553b5de559e79b3b63972d407aafd379eeedc69fdc615c398f6c7b5","46da7e266490628ad3ef619c8d15dabe59572ce9f4d571ad0a9cbf62f797acc9","4d7cdca439db8fe05c39b2064f32b94abc31cfe0783004dbb117ca21622bdfbf","4eaf4aa3ba7d755afaddee3e313a7e477c73eb73b2b32ada77de553a8bf77c8d","50e33ca791451e25ae75fa5dd5d6fa0b78cebb35b5f880be2ec0d87323256f4b","50ec54060f9d9722e28014807b3da4b9e3192bb9390f9230941ded83de00cbd4","512ae486613c09b2c69009ff6556af4fddaac8c75013c54b436e77b071e241e7","5c74ffc538f46d13cb92f206c7f22ecc3fd5a2a9d8eb2ac58e3c41c23b7a825b","5d58aac9bcebca25e6b25a5dfc5fa6b197ad0cb5f4c49523b4d4529beca3215f","6b0df3821f595295e6dd001b043dc7336e307d87260a03b5199ab40779959113","6f46df5dd5a54cd4ebc6df64977c5ba5f8a48f87ca6aef3eae39483a0eed4d00","729db95d8c25e7189f8daced85c894ece810b64dfc44ab3e890c32cbb7cd4486","77fbd1257beee55d32a8ad087337ac77e5658b897b460831e8bc7a3dea19b4f2","78003e0c4ecc62dadc3dab668c0ae6308914bc18aa26b4d2cc80e3ccf63257bd","7a41126489bd4f3b448f63b0edb719380946d03fc57990b72aa7be7dc07f4e65","8122adb38d76da13fe095ff27cdc44e75c810b771b037a7c503d3de9f225154d","91a39fede5ad68fa6ca4b4f98d8b45affb3f2ceaaa7029d96f18221100d8344f","923715f87a746e972bebcba98a41dfac5e89bc3d04e05f47e9822863a7d105cb","95c833c17a63843608f9c2a8f39367e37bf0fbbc90cf9d45f7f5a23254f306c6","9763882c6c50034c020689513f1b62d5be78930620775ecbd28b1410a4c60622","993a153c2865093c655869e9eec8d0c56855fb33b81c1a372c54ad5dbe881bbe","99ffbc08439080ca7d9196f7b678fe5be9536a67af6ca67d18cccfae6a351d79","9d346412bfabbf6c4b70056f4d57c53c0c39c755cb6afab92f9c590594c66ac3","9dcb115b90611fcae97b7b0bf4cdf4565577d1bccfc24368af6cdbb8385dc2ab","a20a17361b414ab5a5ef98d2d185d647e428f01a1c7412584f6b056b3b0313b5","a5acf130c95bca95a14874cc96165d0e232a3446dd06db2fb38dca4ae86ff407","b6c81631be60c300856683e1573e4ce2f8759fc8d5483ad117b2ae2076dff6a8","b947b7f6a72ba548429266b6bf38a422a3713d285f2e976dc87a0292cee316bb","ba6aa2bb067837e58632a057b5d6ea5e745abdb6bc51f40a46a9fcb8648e82cc","bc168a5fab55ae676ddba2d4e6bec49a9b3eac411770f14420689fc719fbb3b1","bef8750441476e9d352ca210adc10198c63a28b9279fa3d891191ef43b0e0216","c62b51e29dc083e34230f26e26cd321767eb2fad66d4efd4f76240e1c26ce035","c83d3e25dcf69d20e60c5eacc6ad242789f3e64dc495d10aed79d5f11f8eea58","d74415b168af43ee97f7bb3cef007b147ef4e77c09dd04b3771997dfb23786f1","e99022873950890a7d3daae16cfbc3eeb54e2cc207a34336283b2ede2c6cf557","ec1923a635d73607e94fccdda35f34e5646ad1b880b5aa20b936acedcd27521c","ef1e76d9b5e5c5ac7dfe0204dcb0bd8d05f0391cd907837c96e54594fc93dcd2","f8282f6da28b5c30f2328faf96724fe76a723c1f351d39c5bcd2139a0f402c98","ff9b871bb12e461d8f61cfb2f2ed025538954e1733abfd7e84605d5a7d320c94"],"recordQualifiers":{},"scopeLabel":"OMIM:308230","sourceIds":["OMIM:308230"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010626/OMIM:308230"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>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.</p>"},"coverage":{"countRecords":37,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":53,"sourceGroups":{"omim":16,"orphanet":0,"published":37}},"features":[{"hpoId":"HP:0410243","label":"Abnormal circulating IgM concentration","primary":false},{"hpoId":"HP:0002849","label":"Absence of lymph node germinal center","primary":false},{"hpoId":"HP:0011448","label":"Ankle clonus","primary":false},{"hpoId":"HP:0001080","label":"Biliary tract abnormality","primary":false},{"hpoId":"HP:0200123","label":"Chronic hepatitis","primary":false},{"hpoId":"HP:0001394","label":"Cirrhosis","primary":false},{"hpoId":"HP:0002720","label":"Decreased circulating IgA concentration","primary":false},{"hpoId":"HP:0005479","label":"Decreased circulating IgE concentration","primary":false},{"hpoId":"HP:0004315","label":"Decreased circulating IgG concentration","primary":false},{"hpoId":"HP:0030388","label":"Decreased class-switched memory B cell proportion","primary":false},{"hpoId":"HP:0005419","label":"Decreased T cell activation","primary":false},{"hpoId":"HP:0010976","label":"Decreased total B cell count","primary":false},{"hpoId":"HP:0001875","label":"Decreased total neutrophil count","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0002014","label":"Diarrhea","primary":false},{"hpoId":"HP:0001618","label":"Dysphonia","primary":false},{"hpoId":"HP:0030812","label":"Enlarged tonsils","primary":false},{"hpoId":"HP:0034285","label":"Enteroviral encephalitis","primary":false},{"hpoId":"HP:0010783","label":"Erythema","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0000230","label":"Gingivitis","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001878","label":"Hemolytic anemia","primary":false},{"hpoId":"HP:0012115","label":"Hepatitis","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0030234","label":"Highly elevated creatine kinase","primary":false},{"hpoId":"HP:0001609","label":"Hoarse voice","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0012418","label":"Hypoxemia","primary":false},{"hpoId":"HP:0002721","label":"Immunodeficiency","primary":false},{"hpoId":"HP:0002959","label":"Impaired Ig class switch recombination","primary":false},{"hpoId":"HP:0002847","label":"Impaired memory B cell generation","primary":false},{"hpoId":"HP:0003261","label":"Increased circulating IgA concentration","primary":false},{"hpoId":"HP:0003496","label":"Increased circulating IgM concentration","primary":false},{"hpoId":"HP:0009071","label":"Inflammatory myopathy","primary":false},{"hpoId":"HP:0033222","label":"Inverted CD4:CD8 ratio","primary":false},{"hpoId":"HP:0001287","label":"Meningitis","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0003326","label":"Myalgia","primary":false},{"hpoId":"HP:0000155","label":"Oral ulcer","primary":false},{"hpoId":"HP:0000629","label":"Periorbital fullness","primary":false},{"hpoId":"HP:0020102","label":"Pneumocystis jirovecii pneumonia","primary":false},{"hpoId":"HP:0002718","label":"Recurrent bacterial infections","primary":false},{"hpoId":"HP:0002783","label":"Recurrent lower respiratory tract infections","primary":false},{"hpoId":"HP:0009098","label":"Recurrent oral thrush","primary":false},{"hpoId":"HP:0000403","label":"Recurrent otitis media","primary":false},{"hpoId":"HP:0040218","label":"Reduced total natural killer cell count","primary":false},{"hpoId":"HP:0030991","label":"Sclerosing cholangitis","primary":false},{"hpoId":"HP:0100806","label":"Sepsis","primary":false},{"hpoId":"HP:5210131","label":"Severe Leishmania infection","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0010280","label":"Stomatitis","primary":false},{"hpoId":"HP:0001873","label":"Thrombocytopenia","primary":false}],"ledeHtml":"X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. There are several classes of antibodies, and each one has a different function in the immune system. Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). The lack of certain antibody classes makes it difficult for people with this disorder to fight off infections.","mondoId":"MONDO:0010626","records":[{"frequencyKind":"count","key":"071169994f525086dfb80a31ae5f67fd8af2023259293fdae4c29a5c6d2d8794","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0001080","is_excluded":true,"label":"Biliary tract abnormality","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"075e5978c63264ab81f97fd997caaf06de12a17c767223e7d1e7da510e1f11a6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"5/56","hpo_id":"HP:0001287","is_excluded":false,"label":"Meningitis","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0a476dd89d13c4c60e49004e70d2a20d70ba278e4a884eee33ccaeb65491358e","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"39/62","hpo_id":"HP:0001875","is_excluded":false,"label":"Decreased total neutrophil count","onset_id":null,"reference":"PMID:35572607;PMID:9255191;PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0e9d8b88102d9cba5c295242881284543752e986661aab9b4c71ab620f38fa1c","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0004315","is_excluded":false,"label":"Decreased circulating IgG concentration","onset_id":null,"reference":"PMID:35572607;PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0ed2eeceb48d5bd412d506adf3832bac7848ad9a7422d946cefe5a144edf7c52","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"11/56","hpo_id":"HP:0030991","is_excluded":false,"label":"Sclerosing cholangitis","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"129c68c5df3a55c9a7770aad4a3754a1cc003958c49613aaf99cac07ae7f9a2d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"0/5","hpo_id":"HP:0410243","is_excluded":true,"label":"Abnormal circulating IgM concentration","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"152b2069358652296c394efdf1cd06ef148ad135c1531f577e1612dc43d06ed4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0001324","is_excluded":true,"label":"Muscle weakness","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"180dfa9b040df553ab6980d3dc5d550311716da99dc82e196aafef33d5be6b5d","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"9/56","hpo_id":"HP:0012115","is_excluded":false,"label":"Hepatitis","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1caf4959d863f0acdbf495dc7f5a5380bbf4b424947441665df54d8d85225600","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"25/56","hpo_id":"HP:0000155","is_excluded":false,"label":"Oral ulcer","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1f4c571070d4807c26a9179168e55acbae242ee88f72f36c625346d4e761282f","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002720","is_excluded":false,"label":"Decreased circulating IgA concentration","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2eaac21dc89f4c2d77deb407b1db3d31bb346806dbc375676dc95f200c27079b","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002849","is_excluded":false,"label":"Absence of lymph node germinal center","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"31ff27b5aa49d207cc4aa661877244d5acb133aff51f3761a935a3f60f6c6d77","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030234","is_excluded":false,"label":"Highly elevated creatine kinase","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"371a760987ce08f3a8e9ada7dad5b453d642892579ecc1cb45aaa58704766c8f","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0033222","is_excluded":false,"label":"Inverted CD4:CD8 ratio","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"39f97d63ae22950a83a0efdfca93d329e3b641791fe4061c40432547504a3041","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"402d579d8553b5de559e79b3b63972d407aafd379eeedc69fdc615c398f6c7b5","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"46da7e266490628ad3ef619c8d15dabe59572ce9f4d571ad0a9cbf62f797acc9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4d7cdca439db8fe05c39b2064f32b94abc31cfe0783004dbb117ca21622bdfbf","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4eaf4aa3ba7d755afaddee3e313a7e477c73eb73b2b32ada77de553a8bf77c8d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003496","is_excluded":false,"label":"Increased circulating IgM concentration","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"50e33ca791451e25ae75fa5dd5d6fa0b78cebb35b5f880be2ec0d87323256f4b","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0030812","is_excluded":false,"label":"Enlarged tonsils","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"50ec54060f9d9722e28014807b3da4b9e3192bb9390f9230941ded83de00cbd4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001618","is_excluded":false,"label":"Dysphonia","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"512ae486613c09b2c69009ff6556af4fddaac8c75013c54b436e77b071e241e7","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005419","is_excluded":false,"label":"Decreased T cell activation","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"5c74ffc538f46d13cb92f206c7f22ecc3fd5a2a9d8eb2ac58e3c41c23b7a825b","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0020102","is_excluded":false,"label":"Pneumocystis jirovecii pneumonia","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5d58aac9bcebca25e6b25a5dfc5fa6b197ad0cb5f4c49523b4d4529beca3215f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0011448","is_excluded":false,"label":"Ankle clonus","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6b0df3821f595295e6dd001b043dc7336e307d87260a03b5199ab40779959113","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6f46df5dd5a54cd4ebc6df64977c5ba5f8a48f87ca6aef3eae39483a0eed4d00","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"729db95d8c25e7189f8daced85c894ece810b64dfc44ab3e890c32cbb7cd4486","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010783","is_excluded":false,"label":"Erythema","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"77fbd1257beee55d32a8ad087337ac77e5658b897b460831e8bc7a3dea19b4f2","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:5210131","is_excluded":false,"label":"Severe Leishmania infection","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"78003e0c4ecc62dadc3dab668c0ae6308914bc18aa26b4d2cc80e3ccf63257bd","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002847","is_excluded":false,"label":"Impaired memory B cell generation","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7a41126489bd4f3b448f63b0edb719380946d03fc57990b72aa7be7dc07f4e65","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001873","is_excluded":false,"label":"Thrombocytopenia","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8122adb38d76da13fe095ff27cdc44e75c810b771b037a7c503d3de9f225154d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"8/56","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"91a39fede5ad68fa6ca4b4f98d8b45affb3f2ceaaa7029d96f18221100d8344f","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0009098","is_excluded":false,"label":"Recurrent oral thrush","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"923715f87a746e972bebcba98a41dfac5e89bc3d04e05f47e9822863a7d105cb","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000230","is_excluded":false,"label":"Gingivitis","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"95c833c17a63843608f9c2a8f39367e37bf0fbbc90cf9d45f7f5a23254f306c6","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0003326","is_excluded":true,"label":"Myalgia","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9763882c6c50034c020689513f1b62d5be78930620775ecbd28b1410a4c60622","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"20/56","hpo_id":"HP:0002783","is_excluded":false,"label":"Recurrent lower respiratory tract infections","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"993a153c2865093c655869e9eec8d0c56855fb33b81c1a372c54ad5dbe881bbe","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030388","is_excluded":false,"label":"Decreased class-switched memory B cell proportion","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"99ffbc08439080ca7d9196f7b678fe5be9536a67af6ca67d18cccfae6a351d79","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000403","is_excluded":false,"label":"Recurrent otitis media","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9d346412bfabbf6c4b70056f4d57c53c0c39c755cb6afab92f9c590594c66ac3","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0005479","is_excluded":false,"label":"Decreased circulating IgE concentration","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9dcb115b90611fcae97b7b0bf4cdf4565577d1bccfc24368af6cdbb8385dc2ab","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0040218","is_excluded":false,"label":"Reduced total natural killer cell count","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a20a17361b414ab5a5ef98d2d185d647e428f01a1c7412584f6b056b3b0313b5","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010280","is_excluded":false,"label":"Stomatitis","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a5acf130c95bca95a14874cc96165d0e232a3446dd06db2fb38dca4ae86ff407","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0200123","is_excluded":false,"label":"Chronic hepatitis","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b6c81631be60c300856683e1573e4ce2f8759fc8d5483ad117b2ae2076dff6a8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0009071","is_excluded":false,"label":"Inflammatory myopathy","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b947b7f6a72ba548429266b6bf38a422a3713d285f2e976dc87a0292cee316bb","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002718","is_excluded":false,"label":"Recurrent bacterial infections","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ba6aa2bb067837e58632a057b5d6ea5e745abdb6bc51f40a46a9fcb8648e82cc","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010976","is_excluded":false,"label":"Decreased total B cell count","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bc168a5fab55ae676ddba2d4e6bec49a9b3eac411770f14420689fc719fbb3b1","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0003261","is_excluded":false,"label":"Increased circulating IgA concentration","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bef8750441476e9d352ca210adc10198c63a28b9279fa3d891191ef43b0e0216","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001609","is_excluded":false,"label":"Hoarse voice","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c62b51e29dc083e34230f26e26cd321767eb2fad66d4efd4f76240e1c26ce035","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000629","is_excluded":false,"label":"Periorbital fullness","onset_id":null,"reference":"PMID:35572607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c83d3e25dcf69d20e60c5eacc6ad242789f3e64dc495d10aed79d5f11f8eea58","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002959","is_excluded":false,"label":"Impaired Ig class switch recombination","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d74415b168af43ee97f7bb3cef007b147ef4e77c09dd04b3771997dfb23786f1","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"18/56","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e99022873950890a7d3daae16cfbc3eeb54e2cc207a34336283b2ede2c6cf557","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"6/56","hpo_id":"HP:0001394","is_excluded":false,"label":"Cirrhosis","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ec1923a635d73607e94fccdda35f34e5646ad1b880b5aa20b936acedcd27521c","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"31/56","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"PMID:9255191","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ef1e76d9b5e5c5ac7dfe0204dcb0bd8d05f0391cd907837c96e54594fc93dcd2","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0034285","is_excluded":false,"label":"Enteroviral encephalitis","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f8282f6da28b5c30f2328faf96724fe76a723c1f351d39c5bcd2139a0f402c98","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0012418","is_excluded":false,"label":"Hypoxemia","onset_id":null,"reference":"PMID:10228294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ff9b871bb12e461d8f61cfb2f2ed025538954e1733abfd7e84605d5a7d320c94","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:308230","disease_name":"Immunodeficiency, X-linked, with hyper-IgM","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002721","is_excluded":false,"label":"Immunodeficiency","onset_id":null,"reference":"OMIM:308230","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome\">X-linked hyper IgM syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune system cells called B cells. B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. When CD40 ligand and its receptor protein are connected, they trigger a series of chemical signals that instruct the B cell to start making IgG, IgA, or IgE antibodies.</p><p>CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in the maturation (differentiation) of T cells, which allows them to carry out their specific functions.</p><p>Variants in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. Variants in the CD40LG gene also impair the T cell&#x27;s ability to mature and interact with other immune system cells. People with X-linked hyper IgM syndrome are prone to infections because they do not have a properly functioning immune system.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes X-linked hyper IgM syndrome?"},{"bodyHtml":"<p>Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. Common infections include pneumonia, sinus infections (sinusitis), and ear infections (otitis). Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). Some people with X-linked hyper IgM syndrome have low levels of white blood cells called neutrophils (neutropenia). Affected individuals may develop autoimmune disorders, neurologic complications from brain and spinal cord (central nervous system) infections, liver disease, and gastrointestinal tumors. They also have an increased risk of lymphoma, which is a cancer of immune system cells.</p><p>The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. Without treatment, this condition can result in death during childhood or adolescence.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-hyper-igm-syndrome","sourceDocuments":[{"name":"X-linked hyper IgM syndrome","reviewed":"2008-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:56.642302+00:00","label":"Causes","pageSha256":"0ec9d7f1cf95822054dc900299eab3a9c7017ebd3626cd9daa7793bda924dfa5","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome"}],"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":"X-linked hyper IgM syndrome"},"schemaVersion":1}