An IRF2BP2 Variant in a Pediatric Patient with Common Variable Immunodeficiency

Area of Science:

• Genetics
• Immunology
• Molecular Biology

Background:

• Interferon regulatory factor-2 binding protein 2 (IRF2BP2) is a transcriptional cofactor involved in apoptosis, survival, and cell differentiation.
• Common Variable Immunodeficiency (CVID) is a primary immunodeficiency characterized by impaired antibody production.

Purpose of the Study:

• To report a case of CVID associated with a heterozygous variant in the IRF2BP2 gene.
• To investigate the potential role of IRF2BP2 in B-cell development and humoral immunity.

Main Methods:

• Case presentation of a 13-year-old girl with recurrent infections and CVID.
• Immunological screening including B-cell subset analysis and specific antibody responses.
• Whole exome sequencing to identify genetic variants.

Main Results:

• The patient presented with panhypogammaglobulinemia, low memory B cells, and impaired specific antibody responses.
• A heterozygous variant (c.112C>Tp.Arg38Cys) in the IRF2BP2 gene was identified.
• The patient achieved good infection control with standard CVID management.

Conclusions:

• This is the youngest reported case of CVID diagnosed with an IRF2BP2 variant.
• The findings suggest IRF2BP2 may play a critical role in memory B-cell development or survival.
• Further functional studies are warranted to elucidate the precise role of IRF2BP2 in B-cell maturation and humoral immunity.