Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Katarzyna Bernat-Sitarz, Katarzyna Jończyk-Potoczna, Agnieszka Pollak
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引用次数: 0
Abstract
Monoallelic variants in the nuclear factor kappa B 1 (NFKB1) gene reinforce the functional haploinsufficiency causing immunodeficiency with marked individual and intrafamilial variability in genotype-phenotype correlations. The leading clinical manifestations of NF-κB1 deficiency are recurrent infections and immune dysregulation disorders with autoinflammatory and lymphoproliferative disease. The reported patient initially presented with a neonatal sepsis-like illness with meningitis because of a parechovirus infection. The diagnosis of an inborn error of immunity, common variable immunodeficiency (CVID), was established based on hypogammaglobulinemia, impaired antibody response to vaccines, IgG subclass deficiency, and low numbers of switched memory B cells. Molecular genetic testing using trio whole exome sequencing was done to define the background of the presenting phenotype, and it revealed a novel heterozygous variant of NFKB1. Viral meningitis and sepsis-like illness are unusual, previously unreported, infectious complications in NF-κB1 deficiency. The transcriptional NF-κB1 regulatory effect on different target gene repertoires and numerous processes including immune and inflammatory responses may indiacte the vulnerability of deficient patients to severe viral infections. This case report exemplifies the advancement of immunogenetics paving the way for the transition from the initial era of clinical recognition to the era of molecular diagnosis of the pediatric CVID.
期刊介绍:
Founded in 1972 by Professor A. Oehling, Allergologia et Immunopathologia is a forum for those working in the field of pediatric asthma, allergy and immunology. Manuscripts related to clinical, epidemiological and experimental allergy and immunopathology related to childhood will be considered for publication. Allergologia et Immunopathologia is the official journal of the Spanish Society of Pediatric Allergy and Clinical Immunology (SEICAP) and also of the Latin American Society of Immunodeficiencies (LASID). It has and independent international Editorial Committee which submits received papers for peer-reviewing by international experts. The journal accepts original and review articles from all over the world, together with consensus statements from the aforementioned societies. Occasionally, the opinion of an expert on a burning topic is published in the "Point of View" section. Letters to the Editor on previously published papers are welcomed. Allergologia et Immunopathologia publishes 6 issues per year and is included in the major databases such as Pubmed, Scopus, Web of Knowledge, etc.