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

Frontiers in Pediatrics

María Edith González-Serrano¹  Saul O. Lugo Reyes¹  Yuridia Salazar-Galvez²  David Múzquiz-Zermeño²  Aidé Tamara Staines-Boone²  Edna Venegas-Montoya²  Jorge Alberto García-Campos³  Rubén Antonio Córdova-Gurrola⁴  Luz María Sánchez-Sánchez⁵ 

[1] Immunodeficiencies Lab, National Institute of Pediatrics, Mexico City, Mexico;Immunology Service, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico;Infectious Disease Department, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico;Pediatrics Service, General Hospital 1, Saltillo, Mexico;Pediatrics Service, Hospital de Especialidades Unidad Medica de Alta Especialidad (UMAE) 25 del Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico;

关键词: DOCK8 deficiency;    large deletion;    Hyper-IgE;    case report;    combined immune deficiency;    literature review;   

DOI  :  10.3389/fped.2021.635322

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY