From Undifferentiated Connective Tissue Disease to Common Variable Immunodeficiency: A Novel NFKB1 Mutation in a Pediatric Case.

Authors

Yu-Jie Hu, Sheng Hao, Dan Feng, Bing-Xue Huang, Wen-Yan Huang

Published in

Clinical case reports. Volume 14. Issue 9. Pages e73464. Epub Sep 11, 2026.

Abstract

Common variable immunodeficiency (CVID) may initially manifest as undifferentiated connective tissue disease (UCTD) in the absence of recurrent infections or hypogammaglobulinemia. In patients presenting with warning signs, neither older age nor normal immunoglobulin levels should preclude consideration of CVID; early genetic testing is recommended.

PMID:
42732248
Bibliographic data and abstract were imported from PubMed on 13 Sep 2026.

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