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, cilt.20, ss.194-196, 2022 (ESCI, Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20
  • Basım Tarihi: 2022
  • Doi Numarası: 10.21911/aai.014
  • Dergi Adı: ASTIM ALLERJI IMMUNOLOJI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.194-196
  • Anahtar Kelimeler: MSMD, mucocutaneous candidiasis, IL12RB1, CLINICAL-FEATURES, INBORN-ERRORS
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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).