학술논문
Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
Document Type
Article
Author
Liquidano‐Perez, Eduardo; Maza‐Ramos, Gibert; Perez Arias, Bethy Alexandra; Lugo Reyes, Saul Oswaldo; Barragan Arevalo, Tania; Solorzano‐Morales, Sara Alejandra; Venegas Montoya, Edna; Staines‐Boone, Aidé Tamara; Guzmán Cotaya, Rogelio; Okada, Satoshi; Picard, Capucine; Patin, Etienne; Ramirez‐Uribe, Nideshda; Bustamante‐Ogando, Juan Carlos; Scheffler‐Mendoza, Selma Cecilia; Yamazaki‐Nakashimada, Marco Antonio; Saez‐de‐Ocariz, Marimar; Espinosa Padilla, Sara Elva; Gonzalez‐Serrano, Maria Edith
Source
Subject
*JOB'S syndrome
*GUANINE nucleotide exchange factors
*IMMUNOLOGICAL deficiency syndromes
*TUBERCULOSIS
*ECZEMA
*FOOD allergy
*OOCYSTS
*AUTOIMMUNE diseases
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Language
ISSN
0905-6157
Abstract
Purpose: We aimed to describe the clinical, immunological, and genetic features of patients with DOCK8 deficiency (DOCK8‐Def) in a tertiary care center for children. Methods: Retrospective chart review of patients' clinical, immunological, and genetic characteristics with DOCK8‐Def. Genetic analysis was performed with targeted‐ or whole‐exome sequencing; we also assessed DOCK8 protein expression and a lymphoproliferation assay and analyzed survival by the Kaplan–Meier method. Results: We described 11 patients from 8 unrelated kindreds. The median age at symptoms' onset was 10 months (range 1–54 months). The median follow‐up time was 53.4 months (4.8–118.8). All patients presented eczema and recurrent sinopulmonary and cutaneous infections. Besides those symptoms, the most frequent manifestations were bronchiectases (8/11), food allergies (6/11), and severe infections (6/11). Infrequent characteristics were detection of CMV in bronchial lavage, C. parvum‐driven sclerosing cholangitis, Takayasu vasculitis, neurological syndromes, pulmonary tuberculosis, and lymphomatoid granulomatosis. Conclusion: DOCK8‐Def has a broad spectrum of manifestations, including allergy, autoimmunity, inflammation, infection, and cancer. The hallmark of this inborn error of immunity is IEI‐associated eczema with eosinophilia and increased IgE. Here, we report six new mutations causing human DOCK8 deficiency and symptoms previously unrecognized to occur in DOCK8‐Def. Therefore, an early diagnosis of DOCK8‐Def is essential to facilitate an adequate treatment such as HSCT. [ABSTRACT FROM AUTHOR]