MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-020-00890-8.pdf
Reference5 articles.
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2. Boisson-Dupuis S, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol. 2012;24(4):364–78.
3. Ueki M, Yamada M, Ito K, Tozawa Y, Morino S, Horikoshi Y, et al. A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases. Clin Immunol. 2017;174:24–31.
4. Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, et al. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants. J Allergy Clin Immunol. 2017;140(1):232–41.
5. Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science. 2001;293(5528):300–3.
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