CASE REPORT article
Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1605857
This article is part of the Research TopicCommunity Series in Primary Immunodeficiencies Worldwide: Volume IIIView all 3 articles
Preserved umbilical cords underscore family histories of inborn errors of immunity
Provisionally accepted
- 1Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan
- 2Nara Medical University, Kashihara, Nara, Japan
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A history of susceptibility to infections and a family history of death because of unexplained infections during infancy are helpful in diagnosing inborn errors of immunity (IEIs). However, infections can occur because of various reasons, and determining whether the underlying disease is undoubtedly an IEI is implausible at present. In Japan, preservation of the umbilical cord at birth is customary. Two patients were suspected of having X-linked agammaglobulinemia (XLA); the patients were ultimately diagnosed with XLA based on the history of susceptibility to infections and family histories of deaths of maternal uncles because of infections during infancy. DNA was extracted from umbilical cords that had been preserved for approximately 50 years.The affected children harbored the same Bruton tyrosine kinase (BTK) variants as those detected using the umbilical cord samples of their maternal uncles. Analysis of preserved umbilical cords can help in ascertaining a family history of IEIs.
Keywords: inborn errors of immunity, Umbilical Cord, X-linked Agammaglobulinemia, Burton tyrosine kinase, family history
Received: 04 Apr 2025; Accepted: 28 May 2025.
Copyright: © 2025 Nishimura, Tomomasa, Suzuki, Miyaoka and Kanegane. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Hirokazu Kanegane, Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, 113-8519, Japan
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