Reference: Conti, F., Carsetti, R., Casanova, J. et al. A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation. J Clin Immunol (2020).
Published: 2 July 2020
Summary: A long term clinical and immunological follow up of patient with NFKBIA mutation with full donor chimerism post HSCT and the bacterial, fungal and viral infections the patient suffered from.
Take Home Message: HSCT cures life threatening clinical manifestations but decreased NFKB signalling in extra-hematopoietic tissues and stromal micro-environment and limited restoration of innate and adaptive immunity emphasises the need for specific follow-up for potential complications