Publication: STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation
Date
Authors
Uz, Elif
Authors
Halaçlı, Sevil Oskay
Çağdaş, Deniz
Tan, Çağman
Erman, Baran
Yılmaz, Didem Yücel
Özgül, Rıza Koksal
Tezcan, İlhan
Sanal, Özden
Advisor
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Academic Press Inc Elsevier Science
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Abstract
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.
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Keywords
STK4 deficiency, Autoimmune cytopenia, T cell deficiency, Hyper IgE syndrome, Disease, Immunology
Citation
Halaçlı, S. O. vd. (2015). "STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation". Clinical İmmunology, 161(2), 316-323.