Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

ABSTRACT:

Purpose

Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which underlie MSMD have been identified. However, pathogenic variants of IFNG encoding a defective IFN-γ have been described in only two siblings, who both underwent hematopoietic stem cell transplantation (HCST).

Methods

We characterized a new patient with MSMD by genetic, immunological, and clinical means. Therapeutic decisions were taken on the basis of these findings.

Results

The patient was born to consanguineous Turkish parents and developed bacillus Calmette-Guérin (BCG) disease following vaccination at birth. Whole-exome sequencing revealed a homozygous pr

SUBMITTER: Rosain J 

PROVIDER: S-EPMC10873451 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature