Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

Author:

Price Susan1,Shaw Pamela A.2,Seitz Amy3,Joshi Gyan4,Davis Joie1,Niemela Julie E.5,Perkins Katie6,Hornung Ronald L.6,Folio Les7,Rosenberg Philip S.8,Puck Jennifer M.9,Hsu Amy P.3,Lo Bernice1,Pittaluga Stefania10,Jaffe Elaine S.10,Fleisher Thomas A.5,Rao V. Koneti1,Lenardo Michael J.1

Affiliation:

1. Molecular Development Section, Laboratory of Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

2. Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;

3. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

4. Biostatistics Research Branch, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD;

5. Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD;

6. Clinical Services Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD;

7. Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD;

8. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD;

9. Department of Pediatrics and Institute for Human Genetics, University of California at San Francisco, San Francisco, CA; and

10. Hematopathology Section, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD

Abstract

Key Points Less than 60% of individuals who inherit a FAS mutation have a clinical manifestation of ALPS, implying a high carrier rate. Major causes of morbidity and mortality in ALPS patients are sepsis following splenectomy and development of lymphoma.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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