Asthma Allergy Immunology

Asthma Allergy Immunology

2022, Vol 20, Num, 3     (Pages: 194-196)

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

Saliha ESENBOGA 1, Hacer Neslihan BILDIK 1, Melike OCAK 1, Deniz CAGDAS 1, Ilhan TEZCAN 1,

1 Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey

DOI: 10.21911/aai.014
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Interleukin 12 receptor beta 1 (IL-12Rβ1) 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).

Keywords : MSMD, mucocutaneous candidiasis, IL12RB1