A Rare Case of NFKB1 Deficiency Presenting with Omenn-Like Phenotype in an Infant: Diagnostic and Clinical Challenges

World Allergy Organization Journal 2026 Open access

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Authors: Alanoud Aljohani, Mofareh AlZahrani, Eman AlIdrissi, Khalid Alshaigi, Hamza Ali Alghamdi
DOI: 10.1016/j.waojou.2026.101291
Cited by: 0

Abstract

Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) signaling pathway plays a crucial role in regulating immune responses and inflammation. Mutations in the NFKB1 or IKBKG genes can lead to variable immunodeficiency syndromes, often overlapping with features of severe combined immunodeficiency (SCID) or Omenn syndrome. This report presents a rare case of NFKB1 deficiency with clinical features resembling Omenn syndrome, highlighting the diagnostic complexity and importance of genetic evaluation in atypical immunodeficiencies.

Fields of Study & Subjects

Immunodeficiency and Autoimmune Disorders Blood disorders and treatments NF-κB Signaling Pathways

Publication details

Journal / source
World Allergy Organization Journal
Volume
19
Issue
2
Pages
101291–101291
Publication date
1 February 2026
Language
EN