Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

Area of Science:

• Immunology
• Genetics
• Endocrinology

Background:

• Polyglandular autoimmune syndrome type 1 (APECED) is a rare autosomal recessive disorder.
• It is characterized by multi-organ autoimmune involvement and susceptibility to infections.
• Mutations in the AIRE gene are the established cause of APECED.

Observation:

• This report details a case of APECED presenting with a single AIRE gene mutation.
• Whole exome sequencing was performed to investigate the genetic basis.
• An additional mutation in the BTNL2 gene was identified.

Findings:

• The patient exhibited clinical features consistent with APECED.
• A single pathogenic mutation in the AIRE gene was detected.
• A novel mutation in the BTNL2 gene was found in conjunction with the AIRE mutation.

Implications:

• This case expands the understanding of APECED genetics.
• The BTNL2 gene mutation may modify the presentation or severity of APECED.
• Further research is warranted to elucidate the role of BTNL2 in APECED pathogenesis.