Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. OBJECTIVES: The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT). MATERIALS AND METHOD: Records of 35 patients diagnosed with WAS during 1991-2008 were reviewed. Genetic diagnosis was established by direct gene sequencing. RESULTS: All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated donor, n = 5; mismatched related donor, n = 2; matched-sibling donor, n = 2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years post-transplant. CONCLUSION: In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children with classical WAS before they suffer from major disease complications and morbidities.

Herpes zoster in juvenile-onset systemic lupus erythematosus: incidence, clinical characteristics and risk factors.

BACKGROUND: Herpes zoster (HZ) is common in systemic lupus erythematosus (SLE) patients, but its clinical features and risk factors in juvenile-onset SLE have not been well described before. METHODS: A retrospective review of the clinical course and infections in pediatric SLE patients managed in our institution from 1988-2004 was performed. Clinical characteristics and potential risk factors for HZ were analyzed. RESULTS: Forty-nine children with SLE were identified. Nineteen episodes of HZ were recorded in 15 patients, and 2 of them had recurrent HZ. The incidence rate was 58.7 episodes/1000 patient-years. No patient had disseminated HZ, postherpetic neuralgia, or cutaneous scarring, and no death was attributed to HZ. Most (63.2%) HZ occurred within 6 months from onset of SLE or disease flare-up. There was no significant difference in age of onset of SLE, gender, disease duration, use of high dose steroid, or other immunosuppressive agents in patients with and without HZ. Patients with HZ were more likely to have prior or concurrent lupus nephritis (86.7%) than those without HZ (58.5%) (P = 0.096). Occurrence of other major infections was also significantly more common in those who had HZ (80.0%) than those without (32.3%) (P = 0.006). CONCLUSIONS: Herpes zoster was common in juvenile-onset SLE patients. Most were benign, without systemic dissemination and postherpetic neuralgia. SLE patients with renal involvement and heightened lupus activity were at greater risk of having HZ. Those with HZ were also more likely to have other major infections during their disease course.