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

• Main Authors: Edna Venegas-Montoya (Author), Aidé Tamara Staines-Boone (Author), Luz María Sánchez-Sánchez (Author), Jorge Alberto García-Campos (Author), Rubén Antonio Córdova-Gurrola (Author), Yuridia Salazar-Galvez (Author), David Múzquiz-Zermeño (Author), María Edith González-Serrano (Author), Saul O. Lugo Reyes (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

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.

Item Description

2296-2360
10.3389/fped.2021.635322