A Patient Presenting with Chronic Mucocutaneous Candidiasis: A Novel IL12RB1 Mutation

ESENBOĞA S., BİLDİK H. N., OCAK M., ÇAĞDAŞ AYVAZ D. N., TEZCAN F. İ.

ASTIM ALLERJI IMMUNOLOJI, vol.20, pp.194-196, 2022 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20
  • Publication Date: 2022
  • Doi Number: 10.21911/aai.014
  • Journal Name: ASTIM ALLERJI IMMUNOLOJI
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.194-196
  • Keywords: MSMD, mucocutaneous candidiasis, IL12RB1, CLINICAL-FEATURES, INBORN-ERRORS
  • Hacettepe University Affiliated: Yes

Abstract

Interleukin 12 receptor beta 1 (IL-12R beta 1) deficiency results in a wide variety of clinical manifestations, ranging from early death in infancy to asymptomatic adulthood. Patients are frequently infected with mycobacteria, with half developing salmonellosis and a quarter developing chronic mucocutaneous candidiasis (CMC). We present a patient with isolated recurrent candidiasis who has a novel IL12RB1 gene mutation (c.903+1G>T).