{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T06:42:18Z","timestamp":1765953738805,"version":"3.48.0"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T00:00:00Z","timestamp":1765929600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"\n Background<\/jats:title>\n \n Primary immunodeficiencies (PIDs) comprise a heterogeneous group of disorders characterized by defects in the immune system, predisposing patients to recurrent and severe infections. Type 68 immunodeficiency, caused by biallelic pathogenic variants in\n MYD88<\/jats:italic>\n , is rare; to date, at least 26 affected individuals have been reported in the literature, several of whom belong to the same families. This condition typically presents in early childhood with recurrent severe bacterial infections (SBIs), often accompanied by an absent or attenuated inflammatory response.\n <\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n \n We report a 3-month-old male patient admitted with multiple SBIs, including left-sided abscessing pyelonephritis, pyogenic liver abscess, and septic pneumonia complicated by tension pneumothorax. Initial immunological screening revealed normal leukocyte counts, immunoglobulin levels, lymphocyte subpopulations, and TREC (T-cell receptor excision circle)\/KREC (kappa-deleting recombination excision circles) copy numbers. Congenital urinary tract anomalies were excluded. Despite clinical improvement, the patient subsequently developed a cold abscess of the cervical lymph node due to\n Staphylococcus aureus<\/jats:italic>\n . Whole-exome sequencing identified two novel compound-heterozygous missense variants in\n MYD88<\/jats:italic>\n (p.Leu35Pro and p.Trp47Cys), both located in the death domain.\n In silico<\/jats:italic>\n analysis suggested potential disruption of \u03b1-helical structure and MyD88\u2013MyD88\/IRAK4 interactions. Sanger sequencing confirmed parental heterozygosity, establishing the diagnosis of type 68 immunodeficiency. Prophylactic antibiotic therapy was initiated, and no further SBIs occurred during 8 months of follow-up.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This report expands the genetic spectrum of immunodeficiency 68 by identifying novel\n MYD88<\/jats:italic>\n mutations. Our findings highlight the value of genetic testing in severe, recurrent bacterial infections, irrespective of conventional laboratory results, and demonstrate improved outcomes achievable with modern management.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fimmu.2025.1683892","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T06:37:39Z","timestamp":1765953459000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Novel variants in the MYD88 gene (c.104T>C, c.141G>C) in a patient with recurrent abscesses as a cause of type 68 immunodeficiency"],"prefix":"10.3389","volume":"16","author":[{"given":"Anastasiia A.","family":"Buianova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Artem A.","family":"Ivanov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera A.","family":"Belova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina F.","family":"Samitova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana V.","family":"Kulichenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iuliia A.","family":"Vasiliadis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitriy O.","family":"Korostin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulia S.","family":"Lashkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,12,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1186\/s13223-018-0290-5","article-title":"Primary immunodeficiency","volume":"14","author":"McCusker","year":"2018","journal-title":"Allergy Asthma Clin Immunol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/j.jaut.2019.01.011","article-title":"Primary immunodeficiency and autoimmunity: A comprehensive review","volume":"99","author":"Amaya-Uribe","year":"2019","journal-title":"J Autoimmun"},{"key":"B3","doi-asserted-by":"publisher","first-page":"110595","DOI":"10.1016\/j.clim.2025.110595","article-title":"Primary immunodeficiency diseases, inflammation and mitochondrial dysfunction","volume":"281","author":"Nesci","year":"2025","journal-title":"Clin Immunol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1080\/1744666X.2020.1801422","article-title":"Global systematic review of primary immunodeficiency registries","volume":"16","author":"Abolhassani","year":"2020","journal-title":"Expert Rev Clin Immunol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-3680","article-title":"Clinical features that identify children with primary immunodeficiency diseases","volume":"127","author":"Subbarayan","year":"2011","journal-title":"Pediatrics"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2022.900055","article-title":"Evaluation of the 10 warning signs in primary and secondary immunodeficient patients","volume":"13","author":"Eldeniz","year":"2022","journal-title":"Front Immunol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"3401","DOI":"10.3390\/jcm12103401","article-title":"Extended list of warning signs in qualification to diagnosis and treatment of inborn errors of immunity in children and young adults","volume":"12","author":"D\u0105browska","year":"2023","journal-title":"J Clin Med"},{"key":"B8","doi-asserted-by":"publisher","first-page":"49","DOI":"10.24110\/0031-403X-2019-98-3-49-54","article-title":"Screening of newborns for primary immunodeficiencies and risk groups for immunoregulatory disorders requiring follow up","volume":"98","author":"Korsunskiy","year":"2019","journal-title":"Pedia n.a G.N Speransky"},{"key":"B9","unstructured":"July\u00a017,\u00a02025\n \n IMMUNODEFICIENCY 68; 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