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STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman’s-Like Disease

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References

  1. Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, et al. Defining combined immunodeficiency. J Allergy Clin Immunol. 2012;130(1):177–83.

    Article  CAS  Google Scholar 

  2. Picard C, al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015;35(8):696–726.

    Article  CAS  Google Scholar 

  3. Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaffer AA, et al. The phenotype of human STK4 deficiency. Blood. 2012;119(15):3450–7.

    Article  CAS  Google Scholar 

  4. Crequer A, Picard C, Patin E, D’Amico A, Abhyankar A, Munzer M, et al. Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS One. 2012;7(8):e44010.

    Article  CAS  Google Scholar 

  5. Nehme NT, Schmid JP, Debeurme F, Andre-Schmutz I, Lim A, Nitschke P, et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood. 2012;119(15):3458–68.

    Article  CAS  Google Scholar 

  6. Du X, et al. Mst1/Mst2 regulate development and function of regulatory T cells through modulation of Foxo1/Foxo3 stability in autoimmune disease. J Immunol. 2014;192(4):1525–35.

    Article  CAS  Google Scholar 

  7. Al-Mousa H, et al. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol. 2016;137(6):1780–7.

    Article  CAS  Google Scholar 

  8. Kong Y, Xu K, Yuan K, Zhu J, Gu W, Liang L, et al. Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome. BMC Pediatr. 2019;19(1):114.

    Article  Google Scholar 

  9. Halacli SO, Ayvaz DC, Sun-Tan C, Erman B, Uz E, Yilmaz DY, et al. STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: a novel mutation. Clin Immunol. 2015;161(2):316–23.

    Article  CAS  Google Scholar 

  10. Moran I, Avery DT, Payne K, Lenthall H, Davies EG, Burns S, et al. B cell-intrinsic requirement for STK4 in humoral immunity in mice and human subjects. J Allergy Clin Immunol. 2019;143(6):2302–5.

    Article  CAS  Google Scholar 

  11. Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, et al. Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference. Kidney Int. 2017;91(1):24–33.

    Article  Google Scholar 

  12. El-Osta HE, Kurzrock R. Castleman’s disease: from basic mechanisms to molecular therapeutics. Oncologist. 2011;16(4):497–511.

    Article  CAS  Google Scholar 

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Acknowledgments

We thank the family members for their generous participation. We acknowledge the Saudi Human Genome Project for infrastructure and informatics support relating to the NGS work. We are also grateful to Salma M Wakil, Dorota Monies, Farrukh Sheikh, Sawsan Abu Awwad, and the sequencing and genotyping core facilities at KFSH&RC, for their invaluable assistance.

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Correspondence to Bandar Al-Saud or Anas M. Alazami.

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Al-Saud, B., Alajlan, H., Sabar, H. et al. STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman’s-Like Disease. J Clin Immunol 39, 823–826 (2019). https://doi.org/10.1007/s10875-019-00682-9

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