Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome

Rishi R Goel; Shuichiro Nakabo; Brian L P Dizon; Amanda Urban; Meryl Waldman; Lillian Howard; Dirk Darnell; Munir Buhaya; Carmelo Carmona-Rivera; Sarfaraz Hasni; Mariana J Kaplan; Alexandra F Freeman; Sarthak Gupta

doi:10.1016/j.jaci.2020.07.024

Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome

J Allergy Clin Immunol. 2021 Feb;147(2):746-749.e9. doi: 10.1016/j.jaci.2020.07.024. Epub 2020 Aug 5.

Affiliations

¹ Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Md.
² Rheumatology Training Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Md.
³ Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
⁴ Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Md.
⁵ Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: freemaal@mail.nih.gov.
⁶ Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Md. Electronic address: sarthak.gupta@nih.gov.

Abstract

We report on patients with STAT3 loss-of-function (LOF) mutations who developed lupus-like autoimmunity. Immune dysregulation seen in STAT3 LOF patients suggests a susceptibility to systemic autoimmunity with important implications in monitoring and management of these patients.

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural

MeSH terms

Adolescent
Autoimmune Diseases / genetics
Autoimmune Diseases / immunology*
Child
Female
Humans
Interferon Type I / immunology
Job Syndrome / genetics
Job Syndrome / immunology*
Loss of Function Mutation
Lupus Erythematosus, Systemic / genetics
Lupus Erythematosus, Systemic / immunology*
Male
Retrospective Studies
STAT3 Transcription Factor / genetics
STAT3 Transcription Factor / immunology*
Young Adult

Substances

Interferon Type I
STAT3 Transcription Factor
STAT3 protein, human

Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome

Authors

Affiliations

Abstract

Publication types

MeSH terms

Substances

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