{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T23:09:30Z","timestamp":1783465770411,"version":"3.55.0"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T00:00:00Z","timestamp":1694476800000},"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:p>This report illustrates a case that would have been missed in the most common screening algorithms used worldwide in newborn screening (NBS) for severe combined immunodeficiency (SCID). Our patient presented with a clinical picture that suggested a severe inborn error of immunity (IEI). The 6-month-old baby had normal T-cell receptor excision circle (TREC) levels but no measurable level of kappa-deleting recombination excision circles (KRECs) in the NBS sample. A <jats:italic>de novo IKZF1-<\/jats:italic>mutation (c.476A&amp;gt;G, p.Asn159Ser) was found. The clinical picture, immunologic workup, and genetic result were consistent with <jats:italic>IKZF1<\/jats:italic>-related combined immunodeficiency (CID). Our patient had symptomatic treatment and underwent allogeneic hematopoietic cell transplantation (HCT). <jats:italic>IKZF1<\/jats:italic>-related CID is a rare, serious, and early-onset disease; this case provides further insights into the phenotype, including KREC status.<\/jats:p>","DOI":"10.3389\/fimmu.2023.1257581","type":"journal-article","created":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T06:43:15Z","timestamp":1694587395000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels"],"prefix":"10.3389","volume":"14","author":[{"given":"Christofer","family":"\u00c4ng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf 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