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

Blood

Volumn 121, Issue 15, 2013, Pages 2943-2951

  Jessen, Birthe ^a   Bode, Sebastian F N ^a   Ammann, Sandra ^a   Chakravorty, Subarna ^b   Davies, Graham ^c   Diestelhorst, Jana ^d   Frei Jones, Melissa ^e   Gahl, William A ^f   Gochuico, Bernadette R ^f   Griese, Matthias ^d   Griffiths, Gillian ^g   Janka, Gritta ^h   Klein, Christoph ^d   Kögl, Tamara ⁱ   Kurnik, Karin ^d   Lehmberg, Kai ^h   Maul Pavicic, Andrea ^a   Mumford, Andrew D ^j   Pace, David ^k   Parvaneh, Nima ^l   Rezaei, Nima ^m   De Saint Basile, Geneviève ⁿ   Schmitt Graeff, Annette ^a   Schwarz, Klaus ^o   Karasu, Gulsun T ^p   Zieger, Barbara ^a   Zur Stadt, Udo ^h   Aichele, Peter ⁱ   Ehl, Stephan ^a   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

^h UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

ⁱ UNIVERSITY OF FREIBURG   (Germany)

^j UNIVERSITY OF BRISTOL   (United Kingdom)

^k MATER DEI HOSPITAL   (Malta)

^l TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^m TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

ⁿ INSERM   (France)

^o UNIVERSITY OF ULM   (Germany)

^p AKDENIZ UNIVERSITY FACULTY OF MEDICINE   (Turkey)

more..

Author keywords

[No Author keywords available]

Indexed keywords

2 AMINO 3 PHOSPHONOPROPIONIC ACID; ALANINE AMINOTRANSFERASE; FERRITIN; GAMMA INTERFERON; LACTATE DEHYDROGENASE; PERFORIN; RAB27A PROTEIN; ADAPTOR PROTEIN; AP3B1 PROTEIN, MOUSE; BETA ADAPTIN; RAB PROTEIN; RAB27A PROTEIN, HUMAN; RAB27A PROTEIN, MOUSE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHEDIAK HIGASHI SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE; CYTOTOXICITY; DEGRANULATION; GENE MUTATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GRISCELLI SYNDROME; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC SYNDROME; HERMANSKY PUDLAK SYNDROME TYPE 2; HUMAN; IN VIVO STUDY; INFECTION RISK; LYMPHOCYTIC CHORIOMENINGITIS VIRUS; LYMPHOCYTOTOXICITY; MOUSE; NONHUMAN; OCULAR ALBINISM; PATIENT RISK; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; ADOLESCENT; ADULT; ANIMAL; C57BL MOUSE; CHILD; FLOW CYTOMETRY; GENETICS; IMMUNOLOGY; METABOLISM; MOUSE MUTANT; MUTATION; PRESCHOOL CHILD;

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; RAB GTP-BINDING PROTEINS; RISK FACTORS; T-LYMPHOCYTES, CYTOTOXIC; YOUNG ADULT;

MLCS; MLOWN;

EID: 84879456568     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-10-463166     Document Type: Article

References (50)

1. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959;14(2):162-169.
2. Shotelersuk V, Dell'Angelica EC, Hartnell L, et al. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med. 2000;108(5):423-427. (Pubitemid 30162963)
3. Badolato R, Parolini S. Novel insights from adaptor protein 3 complex deficiency. J Allergy Clin Immunol. 2007;120(4):735-741;quiz 742-733.
4. Clark R, Griffiths GM. Lytic granules, secretory lysosomes and disease. Curr Opin Immunol. 2003;15(5):516-521. (Pubitemid 37130191)
5. Enders A, Zieger B, Schwarz K, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood. 2006;108(1):81-87. (Pubitemid 43990615)
6. Wenham M, Grieve S, Cummins M, et al. Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Haematologica. 2010;95(2):333-337.
7. Fontana S, Parolini S, Vermi W, et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood. 2006;107(12):4857-4864. (Pubitemid 43882638)
8. Bode SF, Lehmberg K, Maul-Pavicic A, et al. Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis. Arthritis Res Ther. 2012;14(3):213.
9. Janka GE. Hemophagocytic syndromes. Blood Rev. 2007;21(5):245-253. (Pubitemid 47212601)
10. Jordan MB, Allen CE, Weitzman S, et al. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011;118(15):4041-4052.
11. Chiang PW, Spector E, Thomas M, et al. Novel mutation causing Hermansky-Pudlak Syndrome Type 2. Pediatr Blood Cancer. 2010;55(7):1438.
12. Clark RH, Stinchcombe JC, Day A, et al. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol. 2003;4(11):1111-1120. (Pubitemid 37428039)
13. Huizing M, Scher CD, Strovel E, et al. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res. 2002;51(2):150-158. (Pubitemid 34101328)
14. Jung J, Bohn G, Allroth A, et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood. 2006;108(1):362-369. (Pubitemid 43990650)
15. Binder D, van den Broek MF, Kägi D, et al. Aplastic anemia rescued by exhaustion of cytokine-secreting CD8+ T cells in persistent infection with lymphocytic choriomeningitis virus. J Exp Med. 1998;187(11):1903-1920. (Pubitemid 28262453)
16. Crozat K, Hoebe K, Ugolini S, et al. Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis. J Exp Med. 2007;204(4):853-863. (Pubitemid 46631614)
17. Jessen B, Maul-Pavicic A, Ufheil H, et al. Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome. Blood. 2011;118(17):4620-4629.
18. Jordan MB, Hildeman D, Kappler J, et al. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. Blood. 2004;104(3):735-743. (Pubitemid 38970567)
19. Pachlopnik Schmid J, Ho CH, Diana J, et al. A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). Eur J Immunol. 2008;38(11):3219-3225.
20. Kogl T, Muller J, Jessen B, et al. Hemophagocytic lymphohistiocytosis (HLH) in Syntaxin-11 deficient mice: T-cell exhaustion limits fatal disease. Blood. 2013;121(4):604-613.
21. Gochuico BR, Huizing M, Golas GA, et al. Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med. 2012;18(1):56-64.
22. Kägi D, Ledermann B, Bürki K, et al. Cytotoxicity mediated by T cells and natural killer cells is greatly impaired in perforin-deficient mice. Nature. 1994;369(6475):31-37. (Pubitemid 24144352)
23. Feng L, Seymour AB, Jiang S, et al. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet. 1999;8(2):323-330. (Pubitemid 29054274)
24. Battegay M, Cooper S, Althage A, et al. Quantification of lymphocytic choriomeningitis virus with an immunological focus assay in 24- or 96-well plates. J Virol Methods. 1991;33(1-2):191-198.
25. Pircher H, Moskophidis D, Rohrer U, et al. Viral escape by selection of cytotoxic T cell-resistant virus variants in vivo. Nature. 1990;346(6285):629- 633.
26. Ehl S, Klenerman P, Aichele P, et al. A functional and kinetic comparison of antiviral effector and memory cytotoxic T lymphocyte populations in vivo and in vitro. Eur J Immunol. 1997;27(12):3404-3413. (Pubitemid 28018038)
27. Bryceson YT, Pende D, Maul-Pavicic A, et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. 2012;119(12):2754-2763.
28. Henter JI, Horne A, Aricó M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-131. (Pubitemid 44958267)
29. Cernadas M, Sugita M, van der Wel N, et al. Lysosomal localization of murine CD1d mediated by AP-3 is necessary for NK T cell development. J Immunol. 2003;171(8):4149-4155. (Pubitemid 37238691)
30. Elewaut D, Lawton AP, Nagarajan NA, et al. The adaptor protein AP-3 is required for CD1d-mediated antigen presentation of glycosphingolipids and development of Valpha14i NKT cells. J Exp Med. 2003;198(8):1133-1146. (Pubitemid 37323379)
31. Sugita M, Cao X, Watts GF, et al. Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells. Immunity. 2002;16(5):697-706. (Pubitemid 34626690)
32. Mantegazza AR, Guttentag SH, El-Benna J, et al. Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells. Immunity. 2012;36(5):782-794.
33. Li W, Rusiniak ME, Chintala S, et al. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays. 2004;26(6):616-628. (Pubitemid 38758339)
34. Zhen L, Jiang S, Feng L, et al. Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. Blood. 1999;94(1):146-155. (Pubitemid 29300143)
35. Benson KF, Li FQ, Person RE, et al. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet. 2003;35(1):90-96. (Pubitemid 37048601)
36. Massullo P, Druhan LJ, Bunnell BA, et al. Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. Blood. 2005;105(9):3397-3404. (Pubitemid 40628177)
37. Blasius AL, Arnold CN, Georgel P, et al. Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc Natl Acad Sci U S A. 2010;107(46):19973- 19978.
38. Sasai M, Linehan MM, Iwasaki A. Bifurcation of Toll-like receptor 9 signaling by adaptor protein 3. Science. 2010;329(5998):1530-1534.
39. Fischer A, Latour S, de Saint Basile G. Genetic defects affecting lymphocyte cytotoxicity. Curr Opin Immunol. 2007;19(3):348-353. (Pubitemid 46705487)
40. Eapen M, DeLaat CA, Baker KS, et al. Hematopoietic cell transplantation for Chediak-Higashi syndrome. Bone Marrow Transplant. 2007;39(7):411-415. (Pubitemid 46487306)
41. Pachlopnik Schmid J, Moshous D, Boddaert N, et al. Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. Blood. 2009;114(1):211-218.
42. McGarry MP, Borchers M, Novak EK, et al. Pulmonary pathologies in pallid mice result from nonhematopoietic defects. Exp Mol Pathol. 2002;72(3):213-220.
43. Young LR, Gulleman PM, Bridges JP, et al. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med. 2012;186(10):1014-1024.
44. Peden AA, Rudge RE, Lui WW, et al. Assembly and function of AP-3 complexes in cells expressing mutant subunits. J Cell Biol. 2002;156(2):327-336. (Pubitemid 34839913)
45. Balkema GW, Mangini NJ, Pinto LH. Discrete visual defects in pearl mutant mice. Science. 1983;219(4588):1085-1087. (Pubitemid 13138452)
46. Young LR, Borchers MT, Allen HL, et al. Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome. J Immunol. 2006;176(7):4361-4368. (Pubitemid 44264416)
47. Young LR, Pasula R, Gulleman PM, et al. Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis. Am J Respir Cell Mol Biol. 2007;37(1):67-74. (Pubitemid 46999538)
48. Clark EA, Shultz LD, Pollack SB. Mutations in mice that influence natural killer (NK) cell activity. Immunogenetics. 1981;12(5-6):601-613.
49. Meeths M, Chiang SC, Wood SM, et al. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood. 2011;118(22):5783-5793.
50. Zhang K, Jordan MB, Marsh RA, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011;118(22):5794-5798.