Background and Aims

IKAROS, a transcription factor encoded by IKZF1, is expressed during hematopoiesis that is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. Recently, heterozygous germline IKZF1 mutations have been identified in patients with a B cell immune deficiency mimicking common variable immunodeficiency. Herein, we report a patient with common variable immunodeficiency associated with germline missense IKZF1 heterozygous mutation.

Methods

The targeted new generation sequencing PID V1 panel was used.

Results

Case Report:

A 20-year-old male patient who was born to non-consanguineous parents presented with recurrent bacterial upper and lower respiratory tract infection, anemia and chronic diarrhea. Physical examination was normal. Laboratory tests revealed anemia, hypogammaglobulinemia and B cell lymphopenia. In B cell subsets memory B cell, switch memory B cell, marginal zone memory B cell were low. Vaccine responses and isohemagglutinin tests were poor. Colonoskopy was perfermed and revealed as inflammatory bowel disease. The genetic analysis revealed germline missense IKZF1 heterozygous mutation affecting amino acid T510A located in the Zn_C2H2 domain of IKZF1.

Conclusions

Germline heterozygous IKZF1 mutations cause hypogammaglobulinemia, hematologic abnormalities, including B-cell defect; and autoinflammatory diseases.

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.