Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations-Reference-Cited by-同舟云学术

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Published:2015-01-22 Issue:4 Volume:125 Page:591-599
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Milner Joshua D.¹,Vogel Tiphanie P.²³,Forbes Lisa⁴⁵,Ma Chi A.¹,Stray-Pedersen Asbjørg⁴⁵⁶⁷,Niemela Julie E.⁸,Lyons Jonathan J.¹,Engelhardt Karin R.⁹,Zhang Yu¹⁰,Topcagic Nermina²,Roberson Elisha D. O.³¹¹,Matthews Helen¹²,Verbsky James W.¹³¹⁴,Dasu Trivikram¹³¹⁴¹⁵,Vargas-Hernandez Alexander⁴,Varghese Nidhy¹⁶,McClain Kenneth L.¹⁶,Karam Lina B.¹⁶,Nahmod Karen⁴⁵,Makedonas George⁴⁵,Mace Emily M.⁴⁵,Sorte Hanne S.⁷,Perminow Gøri¹⁷,Rao V. Koneti¹²,O’Connell Michael P.¹,Price Susan¹²,Su Helen C.¹⁰,Butrick Morgan¹²,McElwee Joshua¹⁸,Hughes Jason D.¹⁸,Willet Joseph⁹,Swan David⁹,Xu Yaobo¹⁹,Santibanez-Koref Mauro¹⁹,Slowik Voytek²⁰,Dinwiddie Darrell L.²¹²²,Ciaccio Christina E.²³,Saunders Carol J.²¹²⁴²⁵,Septer Seth²⁰,Kingsmore Stephen F.²¹²⁴²⁵,White Andrew J.²,Cant Andrew J.⁹²⁶,Hambleton Sophie⁹²⁶,Cooper Megan A.²²⁷

Affiliation:

1. Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

2. Departments of Pediatrics, Division of Rheumatology, and

3. Internal Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, MO;

4. Departments of Pediatrics, Section of Immunology, Allergy, and Rheumatology,

5. Center for Human Immunobiology of Texas Children’s Hospital, and

6. Molecular and Human Genetics, Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX;

7. Department of Medical Genetics, Oslo University Hospital, Oslo, Norway;

8. Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD;

9. Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;

10. Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

11. Department of Genetics, Washington University School of Medicine, St. Louis, MO;

12. Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

13. Departments of Pediatrics, Division of Rheumatology,

14. Microbiology and Medical Genetics, and

15. Clinical Immunodiagnostic & Research Laboratory, Medical College of Wisconsin, Milwaukee, WI;

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

17. Department of Pediatrics, Oslo University Hospital, Oslo, Norway;

18. Merck Research Laboratories, Boston, MA;

19. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;

20. Department of Pediatrics, Section of Pediatric Gastroenterology and

21. Center for Pediatric Genomic Medicine, Children’s Mercy Hospital and Clinics, Kansas City, MO;

22. Department of Pediatrics and Clinical Translational Science Center, University of New Mexico Health Sciences Center, Albuquerque, NM;

23. Departments of Pediatrics, Division of Allergy and Immunology, and

24. Pathology, Children’s Mercy Hospital and Clinics Kansas City, MO;

25. School of Medicine, University of Missouri-Kansas City, Kansas City, MO;

26. Paediatric Immunology and Infectious Diseases, Great North Children’s Hospital, Newcastle upon Tyne, United Kingdom; and

27. Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO

Abstract

Key Points Germline gain-of-function mutations in STAT3 lead to lymphoproliferation and autoimmunity with prominent cytopenias. Mutations in STAT3 cause altered regulatory T cells and cytokine signaling.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/125/4/591/1386974/591.pdf

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