Flow Cytometry is a Reliable Tool in the Diagnosis of STK4 Deficiency

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Oskay Halaçlı S., Çağdaş Ayvaz D. N., Tezcan F. İ.

ASTIM ALLERJI IMMUNOLOJI, cilt.18, ss.113-117, 2020 (ESCI, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18
  • Basım Tarihi: 2020
  • Doi Numarası: 10.21911/aai.518
  • Dergi Adı: ASTIM ALLERJI IMMUNOLOJI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.113-117
  • Anahtar Kelimeler: STK4, flow cytometry, COMBINED IMMUNODEFICIENCY, MST1, CD45
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Objective: STK4 (serine-threonine protein kinase 4) deficiency is categorized under combined immunodeficiencies, which are a subgroup of primary immunodeficiencies that profoundly affect T cells. Autosomal recessive STK4 deficiency is characterized by recurrent bacterial and viral infections, mucocutaneous candidiasis, and CD4 + T cell lymphopenia. Autoimmune comorbidities including hemolytic anemia and idiopathic thrombocytopenic purpura, and cardiac problems have been reported in STK4-deficient individuals. Current diagnostic tools for STK4 deficiency include next-generation sequencing (NGS) and Sanger sequencing that detect DNA sequence variations, and western blotting, which evaluates altered protein expression. However, all of these assays are timeconsuming; and in particular, NGS is a costly clinical use tool for a diagnostic laboratory. In comparison, flow cytometry is a rapid and reliable system commonly employed in the diagnosis of a wide range of primary immunodeficiency disorders.