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The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

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The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. / Jessen, Birthe; Bode, Sebastian F N; Ammann, Sandra; Chakravorty, Subarna; Davies, Graham; Diestelhorst, Jana; Frei-Jones, Melissa; Gahl, William A; Gochuico, Bernadette R; Griese, Matthias; Griffiths, Gillian; Janka-Schaub, Gritta; Klein, Christoph; Kögl, Tamara; Kurnik, Karin; Lehmberg, Kai; Maul-Pavicic, Andrea; Mumford, Andrew D; Pace, David; Parvaneh, Nima; Rezaei, Nima; de Saint Basile, Geneviève; Schmitt-Graeff, Annette; Schwarz, Klaus; Karasu, Gulsun T; Zieger, Barbara; zur Stadt, Udo; Aichele, Peter; Ehl, Stephan.

in: BLOOD, Jahrgang 121, Nr. 15, 11.04.2013, S. 2943-51.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Jessen, B, Bode, SFN, Ammann, S, Chakravorty, S, Davies, G, Diestelhorst, J, Frei-Jones, M, Gahl, WA, Gochuico, BR, Griese, M, Griffiths, G, Janka-Schaub, G, Klein, C, Kögl, T, Kurnik, K, Lehmberg, K, Maul-Pavicic, A, Mumford, AD, Pace, D, Parvaneh, N, Rezaei, N, de Saint Basile, G, Schmitt-Graeff, A, Schwarz, K, Karasu, GT, Zieger, B, zur Stadt, U, Aichele, P & Ehl, S 2013, 'The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2', BLOOD, Jg. 121, Nr. 15, S. 2943-51. https://doi.org/10.1182/blood-2012-10-463166

APA

Jessen, B., Bode, S. F. N., Ammann, S., Chakravorty, S., Davies, G., Diestelhorst, J., Frei-Jones, M., Gahl, W. A., Gochuico, B. R., Griese, M., Griffiths, G., Janka-Schaub, G., Klein, C., Kögl, T., Kurnik, K., Lehmberg, K., Maul-Pavicic, A., Mumford, A. D., Pace, D., ... Ehl, S. (2013). The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. BLOOD, 121(15), 2943-51. https://doi.org/10.1182/blood-2012-10-463166

Vancouver

Jessen B, Bode SFN, Ammann S, Chakravorty S, Davies G, Diestelhorst J et al. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. BLOOD. 2013 Apr 11;121(15):2943-51. https://doi.org/10.1182/blood-2012-10-463166

Bibtex

@article{2225bf397e8943a1a0b07b6c7a22dc0d,
title = "The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2",
abstract = "Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient also carried a potentially contributing heterozygous RAB27A mutation, the risk for HLH in HPS2 remains unclear. We analyzed susceptibility to HLH in the pearl mouse model of HPS2. After infection with lymphocytic choriomeningitis virus, pearl mice developed all key features of HLH, linked to impaired virus control caused by a moderate defect in CTL cytotoxicity in vivo. However, in contrast to perforin-deficient mice, the disease was transient, and all mice fully recovered and controlled the infection. An additional heterozygous Rab27a mutation did not aggravate the cytotoxicity defect or disease parameters. In the largest survey of 22 HPS2 patients covering 234 patient years, we identified only 1 additional patient with HLH and 2 with incomplete transient HLH-like episodes, although cytotoxicity or degranulation was impaired in all 16 patients tested. HPS2 confers a risk for HLH that is lower than in Griscelli or Chediak-Higashi syndrome, probably because of a milder defect in cytotoxicity. Preemptive hematopoietic stem cell transplantation does not appear justified in HPS2.",
keywords = "Adaptor Protein Complex 3, Adaptor Protein Complex beta Subunits, Adolescent, Adult, Animals, Child, Child, Preschool, Cytotoxicity, Immunologic, Flow Cytometry, Hermanski-Pudlak Syndrome, Humans, Lymphohistiocytosis, Hemophagocytic, Mice, Mice, Inbred C57BL, Mice, Knockout, Mutation, Risk Factors, T-Lymphocytes, Cytotoxic, Young Adult, rab GTP-Binding Proteins",
author = "Birthe Jessen and Bode, {Sebastian F N} and Sandra Ammann and Subarna Chakravorty and Graham Davies and Jana Diestelhorst and Melissa Frei-Jones and Gahl, {William A} and Gochuico, {Bernadette R} and Matthias Griese and Gillian Griffiths and Gritta Janka-Schaub and Christoph Klein and Tamara K{\"o}gl and Karin Kurnik and Kai Lehmberg and Andrea Maul-Pavicic and Mumford, {Andrew D} and David Pace and Nima Parvaneh and Nima Rezaei and {de Saint Basile}, Genevi{\`e}ve and Annette Schmitt-Graeff and Klaus Schwarz and Karasu, {Gulsun T} and Barbara Zieger and {zur Stadt}, Udo and Peter Aichele and Stephan Ehl",
year = "2013",
month = apr,
day = "11",
doi = "10.1182/blood-2012-10-463166",
language = "English",
volume = "121",
pages = "2943--51",
journal = "BLOOD",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "15",

}

RIS

TY - JOUR

T1 - The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

AU - Jessen, Birthe

AU - Bode, Sebastian F N

AU - Ammann, Sandra

AU - Chakravorty, Subarna

AU - Davies, Graham

AU - Diestelhorst, Jana

AU - Frei-Jones, Melissa

AU - Gahl, William A

AU - Gochuico, Bernadette R

AU - Griese, Matthias

AU - Griffiths, Gillian

AU - Janka-Schaub, Gritta

AU - Klein, Christoph

AU - Kögl, Tamara

AU - Kurnik, Karin

AU - Lehmberg, Kai

AU - Maul-Pavicic, Andrea

AU - Mumford, Andrew D

AU - Pace, David

AU - Parvaneh, Nima

AU - Rezaei, Nima

AU - de Saint Basile, Geneviève

AU - Schmitt-Graeff, Annette

AU - Schwarz, Klaus

AU - Karasu, Gulsun T

AU - Zieger, Barbara

AU - zur Stadt, Udo

AU - Aichele, Peter

AU - Ehl, Stephan

PY - 2013/4/11

Y1 - 2013/4/11

N2 - Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient also carried a potentially contributing heterozygous RAB27A mutation, the risk for HLH in HPS2 remains unclear. We analyzed susceptibility to HLH in the pearl mouse model of HPS2. After infection with lymphocytic choriomeningitis virus, pearl mice developed all key features of HLH, linked to impaired virus control caused by a moderate defect in CTL cytotoxicity in vivo. However, in contrast to perforin-deficient mice, the disease was transient, and all mice fully recovered and controlled the infection. An additional heterozygous Rab27a mutation did not aggravate the cytotoxicity defect or disease parameters. In the largest survey of 22 HPS2 patients covering 234 patient years, we identified only 1 additional patient with HLH and 2 with incomplete transient HLH-like episodes, although cytotoxicity or degranulation was impaired in all 16 patients tested. HPS2 confers a risk for HLH that is lower than in Griscelli or Chediak-Higashi syndrome, probably because of a milder defect in cytotoxicity. Preemptive hematopoietic stem cell transplantation does not appear justified in HPS2.

AB - Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient also carried a potentially contributing heterozygous RAB27A mutation, the risk for HLH in HPS2 remains unclear. We analyzed susceptibility to HLH in the pearl mouse model of HPS2. After infection with lymphocytic choriomeningitis virus, pearl mice developed all key features of HLH, linked to impaired virus control caused by a moderate defect in CTL cytotoxicity in vivo. However, in contrast to perforin-deficient mice, the disease was transient, and all mice fully recovered and controlled the infection. An additional heterozygous Rab27a mutation did not aggravate the cytotoxicity defect or disease parameters. In the largest survey of 22 HPS2 patients covering 234 patient years, we identified only 1 additional patient with HLH and 2 with incomplete transient HLH-like episodes, although cytotoxicity or degranulation was impaired in all 16 patients tested. HPS2 confers a risk for HLH that is lower than in Griscelli or Chediak-Higashi syndrome, probably because of a milder defect in cytotoxicity. Preemptive hematopoietic stem cell transplantation does not appear justified in HPS2.

KW - Adaptor Protein Complex 3

KW - Adaptor Protein Complex beta Subunits

KW - Adolescent

KW - Adult

KW - Animals

KW - Child

KW - Child, Preschool

KW - Cytotoxicity, Immunologic

KW - Flow Cytometry

KW - Hermanski-Pudlak Syndrome

KW - Humans

KW - Lymphohistiocytosis, Hemophagocytic

KW - Mice

KW - Mice, Inbred C57BL

KW - Mice, Knockout

KW - Mutation

KW - Risk Factors

KW - T-Lymphocytes, Cytotoxic

KW - Young Adult

KW - rab GTP-Binding Proteins

U2 - 10.1182/blood-2012-10-463166

DO - 10.1182/blood-2012-10-463166

M3 - SCORING: Journal article

C2 - 23403622

VL - 121

SP - 2943

EP - 2951

JO - BLOOD

JF - BLOOD

SN - 0006-4971

IS - 15

ER -