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11 in total

1. Double Trouble? CMC with a Mutation in both AIRE and STAT1.

Authors: Huda Al Dhanhani; Tariq Al Shehri; Desa Lilic; Mark Buddles; Kai Kisand; Maria E Maccari; Timothy Ronan Leahy
Journal: J Clin Immunol Date: 2018-07-27 Impact factor: 8.317

2. Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Authors: Tariq Al Shehri; Kimberly Gilmour; Florian Gothe; Sam Loughlin; Shahnaz Bibi; Andrew D Rowan; Angela Grainger; Thivytra Mohanadas; Andrew J Cant; Mary A Slatter; Sophie Hambleton; Desa Lilic; Timothy R Leahy
Journal: J Clin Immunol Date: 2019-09-11 Impact factor: 8.317

3. Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.

Authors: Elizabeth P Sampaio; Li Ding; Stacey R Rose; Phillip Cruz; Amy P Hsu; Anuj Kashyap; Lindsey B Rosen; Margery Smelkinson; Tatyana A Tavella; Elise M N Ferre; Meredith K Wierman; Christa S Zerbe; Michail S Lionakis; Steven M Holland
Journal: J Allergy Clin Immunol Date: 2017-08-30 Impact factor: 10.793

Review 4. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Authors: Satoshi Okada; Takaki Asano; Kunihiko Moriya; Stephanie Boisson-Dupuis; Masao Kobayashi; Jean-Laurent Casanova; Anne Puel
Journal: J Clin Immunol Date: 2020-08-27 Impact factor: 8.317

5. Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.

Authors: Safa Baris; Fayhan Alroqi; Ayca Kiykim; Elif Karakoc-Aydiner; Ismail Ogulur; Ahmet Ozen; Louis-Marie Charbonnier; Mustafa Bakır; Kaan Boztug; Talal A Chatila; Isil B Barlan
Journal: J Clin Immunol Date: 2016-07-05 Impact factor: 8.317

6. A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation.

Authors: Kornvalee Meesilpavikkai; Willem A Dik; Benjamin Schrijver; Nicole M A Nagtzaam; Angelique van Rijswijk; Gertjan J Driessen; Peter J van der Spek; P Martin van Hagen; Virgil A S H Dalm
Journal: Front Immunol Date: 2017-03-13 Impact factor: 7.561

Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation.

1. Double Trouble? CMC with a Mutation in both AIRE and STAT1.

2. Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

3. Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.

Review 4. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

5. Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.

6. A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation.

Review 7. Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.

8. Furosine Induced Apoptosis by the Regulation of STAT1/STAT2 and UBA7/UBE2L6 Genes in HepG2 Cells.

Review 9. Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

10. Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes.