A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis
- 58 Downloads
To the Editor
Serine/threonine kinase 4 (STK4, MST1, OMIM#614868) deficiency is an autosomal recessive (AR) combined immunodeficiency. Till now, only six different STK4 mutations have been characterized in 13 patients of different ethnic origins [1, 2, 3, 4, 5, 6]. Herein, we describe a 13-year-old patient presenting with a combination of chronic and recurrent respiratory infections, epidermodysplasia verruciformis (EV), and juvenile idiopathic arthritis (JIA). Immunologic studies showed CD4 lymphocytopenia and high concentration of IgM.
The whole exome sequencing exhibited a homozygous mutation in SKT4 gene (NM_006282: Exon 7:c.821dupA). Sanger sequencing confirmed familial segregation of the mutation as an AR trait.
The patient is the first child of consanguineous parents of Iranian origin. No evidence of rheumatic disorders and immunodeficiency states was traced in the family history.
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflict of interest.