{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T05:02:55Z","timestamp":1789448575115,"version":"build-2803163510"},"reference-count":74,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"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":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      This case report looks at a child\u2019s ectodermal dysplasia with immunodeficiency (\n                      <jats:italic>EDA-ID<\/jats:italic>\n                      ), caused by a mutation in the\n                      <jats:italic>IKBKG<\/jats:italic>\n                      gene, and other relevant cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A pediatric patient diagnosed with\n                      <jats:italic>EDA-ID<\/jats:italic>\n                      was examined at Shanxi Bethune Hospital in July 2025. Clinical data were systematically collected, and whole-exome sequencing (WES) was performed on blood samples from the patient and their family members to identify potential pathogenic variants. Segregation analysis and a comprehensive literature review were performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The patient exhibited symptoms including fever, mucoid bloody stools, and atopic dermatitis. WES analysis revealed the presence of a hemizygous variant, designated c.1167dup (p. Glu390ArgfsTer5), within the\n                      <jats:italic>IKBKG<\/jats:italic>\n                      gene. In accordance with the guidelines established by the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genomics Resource (ClinGen), this variant is classified as pathogenic (PVS1+PS4).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      In pediatric patients with early-onset findings, immunodeficiency should be considered after excluding infections, rheumatic or malignancies. Key clinical features that raise suspicion include sparse hair, reduced sweating, dry skin, recurrent infections, treatment-refractory atopic dermatitis, persistently elevated acute-phase inflammatory markers, and immune dysfunction. Genetic testing facilitates early diagnosis, thereby supporting treatment planning. In this study, we identified a pathogenic\n                      <jats:italic>IKBKG<\/jats:italic>\n                      variant (c.1167dupC) in a pediatric patient with\n                      <jats:italic>EDA-ID<\/jats:italic>\n                      via WES, expanding the current understanding of genotype-phenotype correlations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1831594","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:26:52Z","timestamp":1789446412000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Pediatric ectodermal dysplasia with immunodeficiency caused by a hemizygous IKBKG frameshift variant: a case report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Yifan","family":"Xuan","sequence":"first","affiliation":[{"name":"Shanxi Bethune Hospital (Shanxi Medical Academy), Third Hospital of Shanxi Medical University, Department of Pediatrics, Shanxi Bethune Hospital, Tongji Shanxi Hospital","place":["Taiyuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Chang","sequence":"additional","affiliation":[{"name":"Shanxi Bethune Hospital (Shanxi Medical Academy), Third Hospital of Shanxi Medical University, Department of Pediatrics, Shanxi Bethune Hospital, Tongji Shanxi Hospital","place":["Taiyuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfei","family":"Yang","sequence":"additional","affiliation":[{"name":"Shanxi Bethune Hospital (Shanxi Medical Academy), Third Hospital of Shanxi Medical University, Department of Pediatrics, Shanxi Bethune Hospital, Tongji Shanxi Hospital","place":["Taiyuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfen","family":"Wang","sequence":"additional","affiliation":[{"name":"Shanxi Bethune Hospital (Shanxi Medical Academy), Third 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