Cernunnos defect in an Iranian patient with T^- B⁺ NK⁺ severe combined immunodeficiency: A case report and review of the literature.

ABSTRACT:

Background

Defective Cernunnos gene in nonhomologous end-joining (NHEJ) pathway of the DNA repair is responsible for radiosensitive severe combined immunodeficiency (SCID). Herein, presented a new patient with Cernunnos deficiency and summarized the clinical, immunological, and molecular features of reported patients in the literature.

Case

The patient was a 6-month-old female born to consanguineous parents. She presented with long-lasting fever, diarrhea, poor feeding, and restlessness. She had suffered from recurrent fever of unknown origin and multiple episodes of oral candidiasis. In the physical examination, microcephaly, failure to thrive, oral candidiasis, pustular rash on fingers, and perianal ulcers, but no dysmorphic feature were observed. The immunologic workup re

SUBMITTER: Jamee M 

PROVIDER: S-EPMC9356558 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature