Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
National Institutes of Health · National Institute of Allergy and Infectious Diseases · +14 more institutions
Abstract
Germline loss-of-function mutations in the transcription factor signal transducer and activator of transcription 3 (STAT3) cause immunodeficiency, whereas somatic gain-of-function mutations in STAT3 are associated with large granular lymphocytic leukemic, myelodysplastic syndrome, and aplastic anemia. Recently, germline mutations in STAT3 have also been associated with autoimmune disease. Here, we report on 13 individuals from 10 families with lymphoproliferation and early-onset solid-organ autoimmunity associated with 9 different germline heterozygous mutations in STAT3. Patients exhibited a variety of clinical features, with most having lymphadenopathy, autoimmune cytopenias, multiorgan autoimmunity (lung,…
Citation impact
- FWCI
- 16.32
- Percentile
- 100%
- References
- 32
Authors
44- JDJoshua D. MilnerCorresponding
National Institutes of Health, National Institute of Allergy and Infectious Diseases
- TPTiphanie P. Vogel
Washington University in St. Louis, Center for Rheumatology
- LRLisa R. Forbes
ENT and Allergy, Texas Children's Hospital
- CAChi A.
National Institutes of Health, National Institute of Allergy and Infectious Diseases
- ASAsbjørg Stray‐Pedersen
Oslo University Hospital, Baylor College of Medicine, ENT and Allergy, Texas Children's Hospital
Topics & keywords
- Autoimmunity
- Gain of function
- Germline
- Immunology
- Medicine
- Mutation
- Biology
- Genetics
- Good health and well-being