Novel STAT1 Gain-of-Function Mutation Presenting As Combined Immunodeficiency

Overview

Journal J Clin Immunol

Publisher Springer

Specialty Allergy & Immunology

Date 2018 Oct 15

PMID 30317461

Citations 10

Authors

Stella P Hartono

Alexander Vargas-Hernandez

Mark J Ponsford

Ivan K Chinn

Stephen Jolles

Keith Wilson

Lisa R Forbes

Affiliations

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Citing Articles

Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.

Lei W, Lo Y, Tsumura M, Ding J, Lo C, Lin Y J Clin Immunol. 2024; 44(8):184.

PMID: 39177867 DOI: 10.1007/s10875-024-01776-9.

Approach to diagnosing and managing granulomatous-lymphocytic interstitial lung disease.

Galant-Swafford J, Catanzaro J, Achcar R, Cool C, Koelsch T, Bang T EClinicalMedicine. 2024; 75:102749.

PMID: 39170934 PMC: 11338122. DOI: 10.1016/j.eclinm.2024.102749.

Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.

Chen R, Mu H, Chen X, Tsumura M, Zhou L, Jiang X J Clin Immunol. 2024; 44(5):124.

PMID: 38758476 DOI: 10.1007/s10875-024-01720-x.

Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.

Mauracher A, Henrickson S Front Syst Biol. 2023; 2.

PMID: 37670772 PMC: 10477056. DOI: 10.3389/fsysb.2022.910243.

Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.

Lamers O, Smits B, Leavis H, de Bree G, Cunningham-Rundles C, Dalm V Front Immunol. 2021; 12:606099.

PMID: 33936030 PMC: 8086379. DOI: 10.3389/fimmu.2021.606099.

References

Vargas-Hernandez A, Mace E, Zimmerman O, Zerbe C, Freeman A, Rosenzweig S . Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. J Allergy Clin Immunol. 2017; 141(6):2142-2155.e5. PMC: 5924437. DOI: 10.1016/j.jaci.2017.08.040. View

Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Becerra J . Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016; 127(25):3154-64. PMC: 4920021. DOI: 10.1182/blood-2015-11-679902. View

Romberg N, Morbach H, Lawrence M, Kim S, Kang I, Holland S . Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. J Allergy Clin Immunol. 2013; 131(6):1691-3. PMC: 3672340. DOI: 10.1016/j.jaci.2013.01.004. View

Forbes L, Vogel T, Cooper M, Castro-Wagner J, Schussler E, Weinacht K . Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. J Allergy Clin Immunol. 2018; 142(5):1665-1669. PMC: 6322659. DOI: 10.1016/j.jaci.2018.07.020. View

Liu L, Okada S, Kong X, Kreins A, Cypowyj S, Abhyankar A . Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011; 208(8):1635-48. PMC: 3149226. DOI: 10.1084/jem.20110958. View