Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion.

Autor:	Venegas-Montoya E; Immunology Service, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico., Staines-Boone AT; Immunology Service, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico., Sánchez-Sánchez LM; Pediatrics Service, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico., García-Campos JA; Infectious Disease Department, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico., Córdova-Gurrola RA; Pediatrics Service, General Hospital 1, Saltillo, Mexico., Salazar-Galvez Y; Immunology Service, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico., Múzquiz-Zermeño D; Immunology Service, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico., González-Serrano ME; Immunodeficiencies Lab, National Institute of Pediatrics, Mexico City, Mexico., Lugo Reyes SO; Immunodeficiencies Lab, National Institute of Pediatrics, Mexico City, Mexico.
Jazyk:	angličtina
Zdroj:	Frontiers in pediatrics [Front Pediatr] 2021 Jun 14; Vol. 9, pp. 635322. Date of Electronic Publication: 2021 Jun 14 (Print Publication: 2021).
DOI:	10.3389/fped.2021.635322
Abstrakt:	Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse. DOCK8-deficient patients present early in life with eczema, viral cutaneous infections, chronic mucocutaneous candidiasis, bacterial pneumonia, and abscesses, together with eosinophilia, thrombocytosis, lymphopenia, and variable dysgammaglobulinemia that usually includes Hyper-IgE. In fact, before its genetic etiology was known, patients were described as having a form of Hyper-IgE syndrome, a name now deprecated in favor of genetic defects. We describe a school-age male patient with a clinical picture suggestive of DOCK8 deficiency, except for high serum IgE or a family history: early onset, failure to thrive, eczema, warts, condyloma, bronchiolitis, pneumonia, recurrent otitis media, bronchiectasis, candidiasis, leukocytosis, eosinophilia, high IgA, low IgG, and low CD4+ T cells. We were able to confirm the diagnosis through protein expression and whole-exome sequencing. We review the clinical, laboratory, and genetic features of 200 DOCK8-deficient patients; at least 4 other patients have had no elevated IgE, and about 40% do not have Hyper-IgE (above 1,000 IU/mL). Despite this, the constellation of signs, symptoms, and findings allow the suspicion of DOCK8 deficiency and other actinopathies. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2021 Venegas-Montoya, Staines-Boone, Sánchez-Sánchez, García-Campos, Córdova-Gurrola, Salazar-Galvez, Múzquiz-Zermeño, González-Serrano and Lugo Reyes.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu