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Blood|May 15, 2007
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropeniaDaniel C Link, Ghada Kunter, Yumi Kasai, et al.
Blood Advances|October 7, 2025
Germline LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia and defective cytokinesisThijs van Bergen, Dennis Bosch, Christine Bellanné-Chantelot, et al.
Orphanet Journal of Rare Diseases|December 14, 2011
Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective studySophie Ng Wing Tin, Nadine Martin-Duverneuil, Ahmed Idbaih, et al.
British Journal of Haematology|November 14, 2018
Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort studySébastien Héritier, Mohamed-Aziz Barkaoui, Jean Miron, et al.
Blood|June 20, 2018
Mutations in the <i>SRP54</i> gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndromeChristine Bellanné-Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|April 16, 2025
Clinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis SyndromeJingwei Li, Marine Delecourt-Billet, Odile Fenneteau, et al.
Biorxiv : the Preprint Server for Biology|August 12, 2024
Mechanism of neurodegeneration mediated by clonal inflammatory microgliaRocio Vicario, Stamatina Fragkogianni, Maria Pokrovskii, et al.
Blood|April 21, 2024
A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndromeRaffaele Badolato, Laia Alsina, Antoine Azar, et al.
Nature Genetics|August 18, 2014
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropeniaKaan Boztug, Päivi M Järvinen, Elisabeth Salzer, et al.
Nature Communications|August 20, 2021
Somatic genetic rescue of a germline ribosome assembly defectShengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, et al.
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