Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2)

2014 ◽  
Vol 94 (6) ◽  
pp. 1057-1060 ◽  
Author(s):  
Martin Henkes ◽  
Jürgen Finke ◽  
Klaus Warnatz ◽  
Sandra Ammann ◽  
Udo Zur Stadt ◽  
...  
Keyword(s):  
Adult Female ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Late Onset ◽  
Syndrome Type ◽  
Griscelli Syndrome

scholarly journals Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement

2020 ◽  
Vol 11 ◽  
Author(s):  
Yuta Ohishi ◽  
Sandra Ammann ◽  
Vahid Ziaee ◽  
Katharina Strege ◽  
Miriam Groß ◽  
...  
Keyword(s):  
Binding Sites ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Inborn Error ◽  
Clinical Characteristics ◽  
Animal Cell ◽  
Rab Gtpase ◽  
Cytotoxic Lymphocytes ◽  
Syndrome Type ◽  
Griscelli Syndrome

Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by RAB27A mutations that encode RAB27A, a member of the Rab GTPase family. RAB27A is expressed in many tissues and regulates vesicular transport and organelle dynamics. Occasionally, GS-2 patients with RAB27A mutation display normal pigmentation. The study of such variants provides the opportunity to map distinct binding sites for tissue-specific effectors on RAB27A. Here we present a new case of GS-2 without albinism (GS-2 sine albinism) caused by a novel missense mutation (Val143Ala) in the RAB27A and characterize its functional cellular consequences. Using pertinent animal cell lines, the Val143Ala mutation impairs both the RAB27A–SLP2-A interaction and RAB27A–MUNC13-4 interaction, but it does not affect the RAB27A–melanophilin (MLPH)/SLAC2-A interaction that is crucial for skin and hair pigmentation. We conclude that disruption of the RAB27A–MUNC13-4 interaction in cytotoxic lymphocytes leads to the HLH predisposition of the GS-2 patient with the Val143Ala mutation. Finally, we include a review of GS-2 sine albinism cases reported in the literature, summarizing their genetic and clinical characteristics.

scholarly journals A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH)

2008 ◽  
Vol 38 (11) ◽  
pp. 3219-3225 ◽  
Author(s):  
Jana Pachlopnik Schmid ◽  
Chen-Hsuan Ho ◽  
Julien Diana ◽  
Gérard Pivert ◽  
Agnès Lehuen ◽  
...  
Keyword(s):  
Murine Model ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Syndrome Type ◽  
Griscelli Syndrome

scholarly journals Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qing Zhang ◽  
Yun-Ze Zhao ◽  
Hong-Hao Ma ◽  
Dong Wang ◽  
Nan Zhang ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Good Condition ◽  
Central Nervous System Involvement ◽  
Neurological Involvement ◽  
Chinese Family ◽  
Homozygous Mutation ◽  
Syndrome Type ◽  
Hematopoietic Stem ◽  
Griscelli Syndrome

Abstract Background Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Case presentation We describe a 3-year-old boy with GS2 in an Asian Chinese family. He presented with progressive neurological abnormalities following unremitting fever at onset. He developed HLH during the clinical course. A novel homozygous mutation (c.1 A > G) in RAB27A gene was subsequently identified. He was then treated by HLH-1994 protocol combined with ruxolitinib and experienced a dramatic remission. He subsequently underwent a successful haploidentical hematopoietic stem cell transplantation and stayed at a good condition. Conclusions We reported an atypical form of GS2 manifesting as severe central nervous system involvement at onset and subsequent HLH, which was successfully rescued in time. This case also highlights the need for early consideration of immunologic and genetic evaluation for HLH in unexplained neuroinflammation in the diagnostic work up.

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

2022 ◽  
Vol 42 (3) ◽  
pp. 384-388
Author(s):  
Youngeun Lee ◽  
Hyun Jin Park ◽  
Hyoung Jin Kang ◽  
Jung Min Ko ◽  
Boram Kim ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Syndrome Type ◽  
Partial Albinism ◽  
Griscelli Syndrome

Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2

2013 ◽  
Vol 17 (5) ◽  
pp. 487-491 ◽  
Author(s):  
Amir Ali Hamidieh ◽  
Zahra Pourpak ◽  
Kolsoum Yari ◽  
Mohammad Reza Fazlollahi ◽  
Susan Hashemi ◽  
...  
Keyword(s):  
Stem Cell ◽  
Pediatric Patients ◽  
Conditioning Regimen ◽  
Syndrome Type ◽  
Reduced Intensity Conditioning ◽  
Hematopoietic Stem ◽  
Griscelli Syndrome ◽  
Reduced Intensity Conditioning Regimen ◽  
Reduced Intensity

A hemophagocytic syndrome revealing a Griscelli syndrome type 2

2013 ◽  
Vol 71 (4) ◽  
pp. 461-464
Author(s):  
Selim Jennane ◽  
Maria El Kababri ◽  
Laila Hessissen ◽  
Amina Kili ◽  
Mohamed Nacer Nachef ◽  
...  
Keyword(s):  
Hemophagocytic Syndrome ◽  
Syndrome Type ◽  
Griscelli Syndrome

Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot

2008 ◽  
Vol 28 (4) ◽  
pp. 384-389 ◽  
Author(s):  
Setareh Mamishi ◽  
Mohammad Hossein Modarressi ◽  
Babak Pourakbari ◽  
Banafshe Tamizifar ◽  
Fatemeh Mahjoub ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Novel Mutations ◽  
Griscelli Syndrome

Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism

2020 ◽  
Vol 67 (8) ◽  
Author(s):  
Kristine E. Woodward ◽  
Ravi M. Shah ◽  
Susanne Benseler ◽  
Xing‐Chang Wei ◽  
Denise Ng ◽  
...  
Keyword(s):  
Genetic Evaluation ◽  
Neurological Symptoms ◽  
Syndrome Type ◽  
Griscelli Syndrome
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