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Journal of Clinical Immunology

, Volume 38, Issue 7, pp 745–747 | Cite as

Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects

  • Andrea R. Bernasconi
  • Judith Yancoski
  • Mariana Villa
  • Matías M. Oleastro
  • Miguel Galicchio
  • Jorge G. Rossi
Letter to Editor
  • 119 Downloads

Letter to the Editor

The recognition of STAT1 defects as gain (GOF) or loss (LOF) of function in patients suspected of carrying these deficiencies is based on different laboratory tests that allow establishing the functional consequence of a mutation. Particularly in STAT1, monoallelic mutations with GOF, abnormally higher levels of STAT1 phosphorylation after IFNγ or α stimulation, have been described as a distinct feature [1]. In contrast, absence or lower levels of phosphorylation would define a mutation as LOF. STAT1-GOF mutations have been established as the most common genetic cause of chronic mucocutaneous candidiasis (CMC), a condition characterized by impairment of the mucosal immunity against Candida species that has been also associated with reduction of TH17 cells [1, 2]. On the other hand, in monoallelic LOF mutations, susceptibility to mycobacterium diseases is the main clinical characteristic.

We evaluated by flow cytometry (FC) the expression level (gMFI: geometric mean...

Keywords

STAT1 level gain-of-function flow cytometry 

Notes

Acknowledgements

We acknowledge Dr. Lorena Regairaz for her contribution with Patient 3 medical records and Marianela Sanz for her technical assistance.

Compliance with Ethical Standards

Conflict of Interest

The authors declared that they have no conflict of interest.

Supplementary material

10875_2018_557_MOESM1_ESM.ppt (303 kb)
ESM 1 (PPT 303 kb)
10875_2018_557_MOESM2_ESM.doc (28 kb)
ESM 2 (DOC 28 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Andrea R. Bernasconi
    • 1
  • Judith Yancoski
    • 1
  • Mariana Villa
    • 1
  • Matías M. Oleastro
    • 1
  • Miguel Galicchio
    • 2
  • Jorge G. Rossi
    • 1
  1. 1.Immunology and Rheumatology DepartmentHospital de Pediatría “Dr. Juan P. Garrahan”Buenos AiresArgentina
  2. 2.Allergy and Immunology DepartmentHospital de Niños “Víctor J. Vilela”RosarioArgentina

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