Post transplantation follow-up in a case of NFKBIA deficient patient
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
Published: 25 June 2020
Summary: Authors describe management and differential diagnosis of splenic rupture post splenomegaly in an ALPS patient
Take Home Message: Pre-emptive splenic arterial embolization may be considered in ALPS patients with massive splenomegaly who don’t respond to Sirolimus to avoid splenic rupture
Published: 19 June 2020
Journal: Journal of Clinical Immunology
Summary: A CTLA4 haploinsufficient patient with cryptic splice site mutation who presented with classical Kaposi’s sarcoma and the therapeutic response to targeted therapy with Everolimus
Take Home Message: Low-dose sirolimus and everolimus can reprogram exhausted T cells and recalibrate anti-viral and anti-cancer immunity