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MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency

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References

  1. Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol. 2014;26(6):454–70.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

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Acknowledgments

We acknowledge the contribution by the Department of Microbiology, National Institute of Research in Tuberculosis, Guindy, Chennai, India, for the detailed microbiological analysis of non-tubercular mycobacteria in P1.

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Authors and Affiliations

  1. Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Aster CMI Hospital, Bangalore, India

    Sagar Bhattad

  2. Department of Pediatrics, Aster Medcity, Kochi, India

    Jeeson Unni

  3. Department of Dermatology, Skin Clinic, Kochi, India

    Sonny Varkey

Authors
  1. Sagar Bhattad
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  2. Jeeson Unni
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  3. Sonny Varkey
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Correspondence to Sagar Bhattad.

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The authors declared that they have no conflict of interest.

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Bhattad, S., Unni, J. & Varkey, S. MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency. J Clin Immunol 41, 259–261 (2021). https://doi.org/10.1007/s10875-020-00890-8

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  • DOI: https://doi.org/10.1007/s10875-020-00890-8

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