Background and Aims

Kronik mukokutanöz kandidiyazis (CMC) Candida türlerinin neden olduğu tırnakları, cildi, oral ve genital mukozayı etkileyen tekrarlayan veya kalıcı enfeksiyonlarla karakterize bulaşıcı bir fenotiptir. Th17 hücreleri, interlökin-17 (IL-17) üretir ve Candida'ya karşı konakçı mukozal bağışıklıkta önemli bir rol oynar. Son zamanlarda yapılan çalışmalar, IL-17 immünitesinin bozulmasının, CMC'nin gelişiminin altında olduğunu ortaya koydu. Burada tekrarlayan oral ve genital kandidiyazis ile başvuran bir hastada otozomal resesif bir IL17RA eksikliği sunuyoruz.

Methods

The targeted new generation sequencing PID V1 panel was used.

Results

Case report :

3-year-6-month-old male patient with consanguinity between the parents presented with thrush and genital candidiasis. It was learned that his first complaint started at 8 months of age and his complaints recurred despite receiving treatment repeatedly. Physical examination revealed oral candidiasis. Other system examinations were normal. Complete blood count, immunoglobulin and lymphocyte subgroup values were normal. The genetic analysis revealed homozygous mutation in IL17RA gene, NM­_ 014339.6 (c.787C>T (p.Arg263Ter).

Conclusions

Although basic immunological examinations are normal, patients with resistant or recurrent mucocutaneous candidiasis should be investigated for immunodeficiency.