Griscelli syndrome type 2: a tragic tale of two siblings

Mowlika Muppalla; Vijaya Prasanna Parimi; R. N. Tejaswini; Ambavaram Vaishnavi; Prajnya Ranganath; Naveen Kumar Lanka

doi:10.18203/2349-3291.ijcp20251882

Authors

Mowlika Muppalla Department of Clinical Immunology and Rheumatology, ESIC Medical College and Hospital, Hyderabad, Telangana, India
Vijaya Prasanna Parimi Department of Clinical Immunology and Rheumatology, ESIC Medical College and Hospital, Hyderabad, Telangana, India
R. N. Tejaswini Department of Clinical Immunology and Rheumatology, ESIC Medical College and Hospital, Hyderabad, Telangana, India
Ambavaram Vaishnavi Department of Pediatrics, ESIC Medical College and Hospital, Hyderabad, Telangana, India
Prajnya Ranganath Department of Medical Genetics, Nizams Institute of Medical Sciences (NIMS), Hyderabad, Telangana, India
Naveen Kumar Lanka Department of Radiology, ESI Medical College and Hospital, Hyderabad, Telangana, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20251882

Keywords:

Inborn error of immunity, RAB27A mutation, Hemophagocytic lymphohistiocytosis, Albinism

Abstract

Griscelli syndrome (GS) is a rare autosomal recessive disorder classified as an inborn error of immunity. Among its three variants, GS type 2, caused by mutations in the RAB27A gene, is marked by partial albinism and recurrent episodes of hemophagocytic lymphohistiocytosis (HLH). This case report chronicles the poignant journey of two siblings tragically lost to this condition. GS type 2 carries a high mortality rate, primarily due to HLH complications. Currently, hematopoietic stem cell transplantation (HSCT) remains the sole curative treatment for this devastating syndrome.

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Author Biography

Ambavaram Vaishnavi, Department of Pediatrics, ESIC Medical College and Hospital, Hyderabad, Telangana, India

References

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