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Journal of Clinical Immunology

, Volume 39, Issue 1, pp 11–14 | Cite as

A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis

  • Samin Sharafian
  • Vahid ZiaeeEmail author
  • Mohammad Shahrooei
  • Mahsa Ahadi
  • Nima ParvanehEmail author
Letter to Editor
  • 79 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.

Case Presentation

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.

She was a 13-year-old girl currently weighing 34 kg and being 141 cm tall. She...

Notes

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Allergy and Clinical Immunology, Department of PediatricsTehran University of Medical SciencesTehranIran
  2. 2.Pediatric Rheumatology Research Group, Rheumatology Research CenterTehran University of Medical SciencesTehranIran
  3. 3.Department of PediatricsTehran University of Medical SciencesTehranIran
  4. 4.Department of Microbiology and Immunology, Laboratory of Clinical Bacteriology and MycologyKU LeuvenLeuvenBelgium
  5. 5.Specialized Immunology Laboratory of Dr. ShahrooeiAhvazIran
  6. 6.Department of Pathology, Shohada-e-Tajrish HospitalShahid Beheshti University of Medical SciencesTehranIran
  7. 7.Research Center for ImmunodeficienciesTehran University of Medical SciencesTehranIran
  8. 8.Division of Allergy and Clinical Immunology, Department of PediatricsChildren’s Medical CentreTehranIran

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