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


OSKAY HALAÇLI S. , ÇAĞDAŞ AYVAZ D. N. , TEZCAN F. İ.

Asthma Allergy Immunology, vol.18, pp.113-117, 2020 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 18
  • Publication Date: 2020
  • Doi Number: 10.21911/aai.518
  • Title of Journal : Asthma Allergy Immunology
  • Page Numbers: pp.113-117
  • Keywords: STK4, flow cytometry, COMBINED IMMUNODEFICIENCY, MST1, CD45

Abstract

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.