Diagnosing inborn error of immunity following the presentation of a complicated acquired infection after MMRV vaccine administration

Abstract

Live vaccine-acquired infection should attest for the occurrence of inborn errors of immunity. Autosomal recessive immunodeficiency 31B, a result of a signal transducer and activator of transcription 1 genetic mutation, results in defected interferon pathways: interferon alpha/beta and interferon gamma. These interferons are crucial for the defence against viral and mycobacterial infections. Recognition is important for preventive and therapeutic approaches. Herein, we report the presentation of a newly diagnosed 13-month-old child with immunodeficiency 31B after presenting with disseminated measles and varicella infection after Measles, Mumps, Rubella and Varicella vaccination.

Monogenic susceptibility to live viral vaccines

“…A specific role for NKT cells in immunity to vVZV has been proposed based on severe disease in children with apparently selective deficiency of this innate-like T cell subset [ 64 , 65 ]. Severe vaccine strain varicella has also been observed in deficiency states of STAT1 [ 66 ] and STAT2 [ 67 ], consistent with a role for innate interferon in the initial restraint of vVZV replication as in mouse models [ 68 ]. Similar to the pattern of predisposition to severe wild type varicella, antibody deficiency does not in itself confer risk of vVZV dissemination.…”