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April 1, 2021Pediatric Hematology and Oncology

Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure

Yoav H. Messinger Tamara C. Pozos Anne Griffiths William A. Mize Damon R. Olson Angela R. Smith

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Abstract

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Griscelli syndrome type 2 (GS2) is caused by mutations of the RAB27A gene and can be complicated by hemophagocytic lymphohistiocytosis (HLH) at a very young age. A 14 year-old girl with prior histo...

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Cite This Study

Messinger et al. (2021) studied this question.

synapsesocial.com/papers/6aae1e4450563dec59c03987 https://doi.org/10.1080/08880018.2021.1895925

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Griscelli Syndrome Type 2 in Mexican Patients with a Recurrent RAB27A Variant: Phenotypic Variability and Diagnostic ChallengesOriginal Research · 2026
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