A Novel Mutation in the CYBB Gene, Thr343Lys, in a Male Infant with X-Linked Chronic Granulomatous Disease with a Rare Presentation of Bilateral Parotiditis
Sunday, March 6, 2016
South Exhibit Hall H (Convention Center)
Wei Te Lei, MD
Rationale: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease that is characterized by defects in NADPH oxidase causing inability of phagocyte to destroy certain invading pathogens. Patients are vulnerable to catalase-positive microorganisms and are easily to get infections over lungs, skin. Here we described a 11-month-old male infant with X-linked CGD who carried a novel mutation, 1028A>C(Thr343Lys) missense mutation in the CYBB gene with a rare presentation of bilateral parodititis.

Methods: DNA RT-PCR and sequencing of CYBB were performed

Results: This patient was initially hospitalized for 14 days due to pseudomonas oryzihabitans bacteremia at 1 month. He got sequential parotiditis over bilateral sides with right side abscess formation at 10 months and 11 months and was hospitalized for 7 days and 14 days, respectively. He accepted 2 times of debridement and thereafter responded well to oxacillin therapy. IgG, IgA, IgM, IgE and cell surface markers were normal. Laboratory data revealed dysfunction of PMN bacterial killing: tests over a period of 30 mins, 1hr, 2 hrs were: 7.3%, 12.2%, 12.2% (control: 57.4%, 65.2%, 81.7%). CYBB gene analysis revealed a missense mutation in exon 9 [c. 1028C>A, amino acid change p.Thr343Lys].

Conclusions: We believe this is the first reported case of bilateral parodititis in a infant with CGD. Our patient's missense mutation has not been previously reported. This novel CYBB gene mutation may be helpful to elucidate correlations between genotype and phenotype in patients with CGD.