Annaliesse Blincoe, Maximilian Heeg, Patrick K Campbell, Melissa Hines, Amer Khojah, Marisa Klein-Gitelman, Julie-An Talano, Carsten Speckmann, Fabien Touzot, Arjan Lankester, Geertje E Legger, Jacques G Rivière, Marina Garcia-Prat, Laura Alonso, Maria C Putti, Kai Lehmberg, Sarah Maier, Yasmine El Chazli, Marwa Abd Elmaksoud, Itziar Astigarraga, Natalja Kurjane, Inita Bulina, Viktorija Kenina, Yenan Bryceson, Jelena Rascon, Anne Lortie, Gal Goldstein, Claire Booth, Austen Worth, Evangeline Wassmer, Erica G Schmitt, Julia T Warren, Jeffrey J Bednarski, Salah Ali, Kuang-Yueh Chiang, Joerg Krueger, Michael M Henry, Steven M Holland, Rebecca A Marsh, Stephan Ehl, Elie Haddad
Isolated neuroinflammatory disease has been described in case reports of familial hemophagocytic lymphohistiocytosis (FHL), but the clinical spectrum of disease manifestations, response to therapy and prognosis remain poorly defined. We combined an international survey with a literature search to identify FHL patients with (i) initial presentation with isolated neurological symptoms; (ii) absence of cytopenia and splenomegaly at presentation; and (iii) systemic HLH features no earlier than 3 months after neurological presentation...
August 2020: Journal of Clinical Immunology