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Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.
Clin Exp Dermatol
February 2024
Allergy Immunology Unit.
Background: Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies.
Objectives: To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency.
STK4 deficiency and epidermodysplasia verruciformis-like lesions: A case report.
Pediatr Dermatol
January 2024
Department of Pediatric Dermatology, HOMI Fundacion Hospital Pediatrico la Misericordia, Bogota, Colombia.
Serine/threonine kinase 4 deficiency (STK4 or MST1, OMIM:614868) is an autosomal recessive (AR) combined immunodeficiency that can present with skin lesions such as epidermodysplasia verruciformis-like lesions (EVLL). Herein, we describe a 17-year-old male patient born from consanguineous parents presenting with recurrent respiratory infections, verruciform plaques, poikiloderma, chronic benign lymphoproliferation, and Sjögren syndrome with suspected interstitial lymphocytic pneumonia.
View Article and Find Full Text PDFFocal epidermodysplasia-verruciformis-like pathologic changes in skin neoplasms.
J Cutan Pathol
October 2023
Department of Dermatology, Mayo Clinic, Rochester, Minnesota, USA.
Eosinophilic homogeneous intracytoplasmic inclusion bodies in acquired epidermodysplasia verruciformis-like lesions.
J Cutan Pathol
December 2022
Department of Pathology, University of Cambridge, Cambridge, UK.
Cutaneous squamous cell carcinoma with epidermodysplasia verruciformis-like features in a patient with Schimke immune-osseous dysplasia.
J Cutan Pathol
June 2018
Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
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