B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

ABSTRACT:

Background

DNA repair is crucial for maintaining genomic integrity and plays a significant role in the immune system. Defects in DNA repair pathways are often associated with immunodeficiency, including B-cell defects, which are consistent with the need for DNA repair during V(D)J recombination, class switching, and somatic hypermutation during B-cell maturation. Polynucleotide kinase 3'-phosphatase (PNKP) plays a significant role in DNA repair. PNKP deficiency is characterized by neurologic developmental abnormalities; however, immunodeficiency has not yet been reported.

Objective

We focused on a pair of PNKP-deficient siblings who presented with microcephaly, eye abnormalities, and hypogammaglobulinemia. We aimed to analyze the effect of PNKP deficiency on B-cell developme

SUBMITTER: Takada S 

PROVIDER: S-EPMC12271857 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature