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Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion.
- Source :
-
Frontiers in pediatrics [Front Pediatr] 2021 Jun 14; Vol. 9, pp. 635322. Date of Electronic Publication: 2021 Jun 14 (Print Publication: 2021). - Publication Year :
- 2021
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Abstract
- 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.<br />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.<br /> (Copyright © 2021 Venegas-Montoya, Staines-Boone, Sánchez-Sánchez, García-Campos, Córdova-Gurrola, Salazar-Galvez, Múzquiz-Zermeño, González-Serrano and Lugo Reyes.)
Details
- Language :
- English
- ISSN :
- 2296-2360
- Volume :
- 9
- Database :
- MEDLINE
- Journal :
- Frontiers in pediatrics
- Publication Type :
- Report
- Accession number :
- 34195158
- Full Text :
- https://doi.org/10.3389/fped.2021.635322