STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

HALACLI S. O., AYVAZ D. N., Sun-Tan C., Erman B., Uz E., YILMAZ D. Y., ...Daha Fazla

CLINICAL IMMUNOLOGY, cilt.161, sa.2, ss.316-323, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 161 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.clim.2015.06.010
  • Dergi Adı: CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.316-323
  • Anahtar Kelimeler: STK4 deficiency, Autoimmune cytopenia, T cell deficiency, Hyper IgE syndrome, DISEASE
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Combined immunodeficiencies (CIDs) are heterogeneous group of disorders characterized by abrogated/impaired T cell development and/or functions that resulted from diverse genetic defects. In addition to the susceptibility to infections with various microorganisms, the patients may have lymphoproliferation, autoimmunity, inflammation, allergy and malignancy. Recently, three groups have independently reported patients having mutations in STK4 gene that cause a novel autosomal recessive (AR) CID. We describe here two siblings with a novel STK4 mutation identified during the evaluation of a group of patients with features highly overlapping with those of DOCK-8 deficiency, a form of AR hyperimmunoglobulin E syndrome. The patients' clinical features include autoimmune cytopenias, viral skin (molluscum contagiosum and perioral herpetic infection) and bacterial infections, mild onychomycosis, mild atopic and seborrheic dermatitis, lymphopenia (particularly CD4 lymphopenia), and intermittent mild neutropenia. Determination of the underlying defect and reporting the patients are required for the description of the phenotypic spectrum of each immunodeficiency. (C) 2015 Elsevier Inc. All rights reserved.