Survival of wild polio by a patient with XLA

Abstract

Background: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by failure of B-cell differentiation and hypogammaglobulinemia. In addition to being susceptible to bacterial infections, patients with XLA are also susceptible to enteroviruses. Systemic enterocytopathogenic human orphan virus (ECHO), coxsackie virus, and vaccine-related polio infections have caused severe morbidity and high mortality rates in XLA patients.

Objective: We report a 54-year-old male with molecularly defined XLA who survived wild poliomyelitis in childhood before the diagnosis of XLA.

Methods: At age 5, in 1951, the patient contracted wild polio, characterized by diarrhea and motor weakness. He subsequently developed recurrent sinusitis, bronchitis, and pneumonia, and at age 31 was found to be hypogammaglobulinemic and was started on immunoglobulin replacement. Laboratory evaluation at age 47 revealed an immunoglobulin G of 256 mg/dL, and B-cells (CD19) of 0.1%. Mutation analysis of Bruton's tyrosine kinase revealed a 26-basepair deletion between nucleotides 146 and 173 within the plextrin homology domain, resulting in a frameshift and premature termination.

Conclusions: Resolution of wild poliovirus infection is possible in patients with XLA.