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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

Reference: Kohrogi, K., Migita, M., Anan, T. et al. Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture. J Clin Immunol (2020).

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 

Reference: Yap, J.Y., Gloss, B., Batten, M. et al. Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency. J Clin Immunol (2020)

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

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