Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Author:

Chinn Ivan K.123,Eckstein Olive S.124,Peckham-Gregory Erin C.14,Goldberg Baruch R.123,Forbes Lisa R.123,Nicholas Sarah K.123,Mace Emily M.123,Vogel Tiphanie P.123,Abhyankar Harshal A.24,Diaz Maria I.24,Heslop Helen E.1245,Krance Robert A.1245,Martinez Caridad A.1245,Nguyen Trung C.1267,Bashir Dalia A.1267,Goldman Jordana R.126,Stray-Pedersen Asbjørg8910,Pedroza Luis A.11,Poli M. Cecilia1212,Aldave-Becerra Juan C.13,McGhee Sean A.14,Al-Herz Waleed15,Chamdin Aghiad16,Coban-Akdemir Zeynep H.1017,Jhangiani Shalini N.1718,Muzny Donna M.1718,Cao Tram N.123,Hong Diana N.123,Gibbs Richard A.101718,Lupski James R.12101718,Orange Jordan S.123,McClain Kenneth L.124,Allen Carl E.124

Affiliation:

1. Department of Pediatrics, Baylor College of Medicine, Houston, TX;

2. Department of Pediatrics, Texas Children’s Hospital, Houston, TX;

3. Division of Pediatric Immunology/Allergy/Rheumatology and

4. Division of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, TX;

5. Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX;

6. Division of Critical Care Medicine, Texas Children’s Hospital, Houston, TX;

7. Center for Translational Research on Inflammatory Diseases, Michael E. DeBakey Veteran Affairs Medical Center, Houston, TX;

8. Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway;

9. Institute of Clinical Medicine, University of Oslo, Oslo, Norway;

10. Baylor-Hopkins Center for Mendelian Genomics, Houston, TX;

11. Universidad San Francisco de Quito, Colegio de Ciencias de la Salud–Hospital de los Valles, Quito, Ecuador;

12. Universidad del Desarrollo, Clinica Alemana de Santiago, Santiago, Chile;

13. Division of Allergy and Immunology, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru;

14. Division of Immunology and Allergy, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA;

15. Department of Pediatrics, Kuwait University, Kuwait City, Kuwait;

16. Department of Pediatrics and Human Development, Michigan State University, Lansing, MI; and

17. Department of Molecular and Human Genetics and

18. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX

Abstract

Key Points Whole-exome sequencing may identify specific therapeutic opportunities for patients with HLH. HLH should be conceptualized as a critical illness phenotype driven by toxic activation of immune cells from different underlying mechanisms.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference48 articles.

1. Histiocytic medullary reticulosis;Bodley Scott;Lancet,1939

2. Familial haemophagocytic reticulosis;Farquhar;Arch Dis Child,1952

3. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis;Henter;Pediatr Blood Cancer,2007

4. Pathophysiology and epidemiology of hemophagocytic lymphohistiocytosis;Allen,2015

5. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation;Henter;Blood,2002

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