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Case Reports
. 2022 May 1;42(3):384-388.
doi: 10.3343/alm.2022.42.3.384.

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism

Youngeun Lee  1 , Hyun Jin Park  2 , Hyoung Jin Kang  2 , Jung Min Ko  2 , Boram Kim  1 , Yoon Hwan Chang  1 , Hyun Kyung Kim  1 , Jee-Soo Lee  1 , Man Jin Kim  1 , Sung Sup Park  1   3 , Moon-Woo Seong  1   3
Affiliations
Case Reports

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism

Youngeun Lee et al. Ann Lab Med. .
No abstract available

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Conflict of interest statement

CONFLICTS OF INTEREST

None declared.

Figures

Fig. 1
Fig. 1
Bone marrow morphologic characteristics of the patient, next-generation sequencing data visualization using Integrative Genomics Viewer, and Sanger sequencing results revealing two RAB27A variants. (A, B) Hemophagocytes with ingested granulocytes (A) and multiple ingested nucleated red blood cells and erythroid progenitors (B) on the bone marrow aspirate smears (Wright-Giemsa stain, ×1,000). (C, D) Sequences of the RAB27A gene showing two splice site variants, c.467+5G>A (C) and c.343+2T>C (D). (E) Sanger sequencing chromatograms of the two RAB27A variants in the patient and his parents.
See this image and copyright information in PMC

References

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