Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism

Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism

Griscelli syndrome type 2 (GS-2) is a rare congenital immune dysfunction characterized by partial albinism and recurrent episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by a variant in the gene encoding Rab27a leading to a degranulation defect in melanocytes, natural killer (NK)-...

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Main Authors: Johanna Rausch, Stephanie Herold, Simone Liebhäuser, Yagmur Bülbül, Edite Antunes Ferreira, Till Wenz, Kevin Jan Legscha, Matthias Bros, Florian Butsch, Oliver Kriege, Klaus Warnatz, Miriam Groß, Kai Lehmberg, Helena Clara Lichtenfeld, Paul La Rosée, Markus Philipp Radsak, Matthias Theobald, Hakim Echchannaoui, Markus Munder
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Immunology
Subjects:
Griscelli syndrome type 2
hemophagocytic lymphohistiocytosis
RAB27a variant
polymorphonuclear neutrophils
degranulation defect
hyperinflammation
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1604460/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1604460/full

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