Specific antibody deficiency in a patient with Jacobsen syndrome and Paris-Trousseau syndrome

RATIONALE: Jacobsen syndromeis a rare 11q terminal deletion disorder characterized by short stature, cognitive deficits, congenital heart disease, thrombocytopenia (Paris-Trousseau syndrome), genitourinary anomalies, psychiatric disorders, ophthalmologic disorders, and recurrent infections. To date, 3 immunodefiencies have been reported among these patients, namely IgM and IgA deficiency, IgM deficiency with T-cell quantitative and qualitative deficiency, and common variable immunodeficiency. We report a patient with Jacobsen syndrome and Paris Trousseau syndrome who was diagnosed with specific antibody deficiency. METHODS: A 10 year-old male with Jacobsen syndrome and a history of failure to thrive presented for chronic sinusitis refractory to adenoidectomy and otitis media refractory to serial tympanostomy tubes. He was given antibiotics as frequently as every 6 weeks and was on prophylactic nasal antibiotics. No invasive or opportunistic infections were diagnosed. RESULTS: In vitro IgE tests to aeroallergens were negative. Serum IgG and IgA were normal; IgM was extremely low. IgG subclasses were normal. Specific antibody testing showed non-protective titers to all 7 serotypes of S. pneumoniae in Prevnar, despite having received the full series of Prevnar as an infant. Four weeks after a booster vaccine with Prevnar, he responded to only 3 serotypes. After another 6 weeks he lost immunity to an additional serotype. CONCLUSIONS: We report the first case of specific antibody deficiency in a patient with Jacobsen syndrome. Our findings suggest that specific antibody deficiency may be a cause for these patients' recurrent upper respiratory infections.