M281 a case of x-linked scid with concomitant hlh and osteopetrosis: a therapeutic challenge

Many rare genetic disorders such as SCID (severe combined immunodeficiency) and osteopetrosis utilize bone marrow transplantation as a curative treatment. Each disorder individually is considered a rare entity, however below we describe a patient who not only was found to have both of these diseases, but his post natal course was also complicated by HLH and HHV 6 infection which created both a diagnostic and therapeutic challenge. No other patient with these constellation of disorders has been described in the literature.

Source: Annals of Allergy, Asthma and Immunology - October 31, 2019 Category: Allergy & Immunology Authors: M. El-Bohy, J. Palmieri, E. Secord Source Type: research