{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T12:33:21Z","timestamp":1789475601320,"version":"build-2803163510"},"reference-count":37,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,5,1]]},"abstract":"<jats:p>X-linked osteopetrosis, anhydrotic ectodermal dysplasia, and immunodeficiency (XL-O-EDA-ID) is a disorder that is caused by hypomorphic mutations in the nuclear factor \u03baB essential modulator (NEMO). These mutations lead to an impaired NF-\u03baB activation. In vitro analyses and studies in animal models show that inhibition of NF-\u03baB leads to a decrease of cytokine production and T-cell proliferation. Patients classically display poor or delayed inflammatory response to infections. We describe a boy with XL-O-EDA-ID, 1167-1168insC NEMO mutation, and recurrent infections. In early infancy, he experienced hemophagocytosis with transient deficiency of natural killer activity. Increased immunoglobulin M levels in blood resulted from a monoclonal immunoglobulin M gammopathy. Blood T-cell numbers were constantly increased, most probably resulting from a peripheral T-cell expansion. Our observations suggest that patients with hypomorphic NEMO mutations and repeated infections may experience inflammatory dysregulation.<\/jats:p>","DOI":"10.1542\/peds.2005-2062","type":"journal-article","created":{"date-parts":[[2006,4,25]],"date-time":"2006-04-25T00:29:44Z","timestamp":1145924984000},"page":"e1049-e1056","source":"Crossref","is-referenced-by-count":47,"title":["Transient Hemophagocytosis With Deficient Cellular Cytotoxicity, Monoclonal Immunoglobulin M Gammopathy, Increased T-Cell Numbers, and Hypomorphic<i>NEMO<\/i>Mutation"],"prefix":"10.1542","volume":"117","author":[{"given":"Jana M. Pachlopnik","family":"Schmid","sequence":"first","affiliation":[{"name":"Division of Immunology\/Hematology\/BMT, University Children's Hospital, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja A.","family":"Junge","sequence":"additional","affiliation":[{"name":"Division of Immunology\/Hematology\/BMT, University Children's Hospital, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann Peter","family":"Hossle","sequence":"additional","affiliation":[{"name":"Division of Immunology\/Hematology\/BMT, University Children's Hospital, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Marion","family":"Schneider","sequence":"additional","affiliation":[{"name":"Section of Experimental Anesthesiology, University of Ulm, Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eddy","family":"Roosnek","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergology, University Hospital, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard A.","family":"Seger","sequence":"additional","affiliation":[{"name":"Division of Immunology\/Hematology\/BMT, University Children's Hospital, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayfun","family":"Gungor","sequence":"additional","affiliation":[{"name":"Division of Immunology\/Hematology\/BMT, University Children's Hospital, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2006,5,1]]},"reference":[{"key":"2021120823272750000_R1","doi-asserted-by":"crossref","unstructured":"Abinun M, Spickett G, Appleton AL, Flood T, Cant AJ. 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