Skip to main content
Top
Literature
1.
go back to reference 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
2.
go back to reference 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
3.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
4.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
5.
go back to reference Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, et al. Defective leukocyte adhesion and chemotaxis contributes to combined immunodeficiency in humans with autosomal recessive MST1 deficiency. J Clin Immunol. 2016;36(2):117–22.CrossRefPubMedPubMedCentral Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, et al. Defective leukocyte adhesion and chemotaxis contributes to combined immunodeficiency in humans with autosomal recessive MST1 deficiency. J Clin Immunol. 2016;36(2):117–22.CrossRefPubMedPubMedCentral
6.
go back to reference Sherkat R, Sabri MR, Dehghan B, Bigdelian H, Reisi N, Afsharmoghadam N, et al. EBV lymphoproliferative-associated disease and primary cardiac T-cell lymphoma in a STK4 deficient patient: a case report. Medicine (Baltimore). 2017;96(48):e8852.CrossRef Sherkat R, Sabri MR, Dehghan B, Bigdelian H, Reisi N, Afsharmoghadam N, et al. EBV lymphoproliferative-associated disease and primary cardiac T-cell lymphoma in a STK4 deficient patient: a case report. Medicine (Baltimore). 2017;96(48):e8852.CrossRef
7.
go back to reference Parvaneh N, Filipovich AH, Borkhardt A. Primary immunodeficiencies predisposed to Epstein-Barr virus-driven haematological diseases. Br J Haematol. 2013;162(5):573–86.CrossRefPubMed Parvaneh N, Filipovich AH, Borkhardt A. Primary immunodeficiencies predisposed to Epstein-Barr virus-driven haematological diseases. Br J Haematol. 2013;162(5):573–86.CrossRefPubMed
8.
go back to reference Allenspach E, Torgerson TR. Autoimmunity and primary immunodeficiency disorders. J Clin Immunol. 2016;36(Suppl 1):57–67.CrossRefPubMed Allenspach E, Torgerson TR. Autoimmunity and primary immunodeficiency disorders. J Clin Immunol. 2016;36(Suppl 1):57–67.CrossRefPubMed
9.
go back to reference Grimbacher B, Warnatz K, Yong PFK, Korganow AS, Peter HH. The crossroads of autoimmunity and immunodeficiency: lessons from polygenic traits and monogenic defects. J Allergy Clin Immunol. 2016;137(1):3–17.CrossRefPubMed Grimbacher B, Warnatz K, Yong PFK, Korganow AS, Peter HH. The crossroads of autoimmunity and immunodeficiency: lessons from polygenic traits and monogenic defects. J Allergy Clin Immunol. 2016;137(1):3–17.CrossRefPubMed
10.
go back to reference Park E, Kim MS, Song JH, Roh KH, Lee R, Kim TS. MST1 deficiency promotes B cell responses by CD4(+) T cell-derived IL-4, resulting in hypergammaglobulinemia. Biochem Biophys Res Commun. 2017;489(1):56–62.CrossRefPubMed Park E, Kim MS, Song JH, Roh KH, Lee R, Kim TS. MST1 deficiency promotes B cell responses by CD4(+) T cell-derived IL-4, resulting in hypergammaglobulinemia. Biochem Biophys Res Commun. 2017;489(1):56–62.CrossRefPubMed
11.
go back to reference Du X, Shi H, Li J, Dong Y, Liang J, Ye J, 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.CrossRefPubMed Du X, Shi H, Li J, Dong Y, Liang J, Ye J, 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.CrossRefPubMed
12.
go back to reference Anand R, Kim AY, Brent M, Marmorstein R. Biochemical analysis of MST1 kinase: elucidation of a C-terminal regulatory region. Biochemistry. 2008;47(25):6719–26.CrossRefPubMedPubMedCentral Anand R, Kim AY, Brent M, Marmorstein R. Biochemical analysis of MST1 kinase: elucidation of a C-terminal regulatory region. Biochemistry. 2008;47(25):6719–26.CrossRefPubMedPubMedCentral
13.
go back to reference Cheung WL, Ajiro K, Samejima K, Kloc M, Cheung P, Mizzen CA, et al. Apoptotic phosphorylation of histone H2B is mediated by mammalian sterile twenty kinase. Cell. 2003;113(4):507–17.CrossRefPubMed Cheung WL, Ajiro K, Samejima K, Kloc M, Cheung P, Mizzen CA, et al. Apoptotic phosphorylation of histone H2B is mediated by mammalian sterile twenty kinase. Cell. 2003;113(4):507–17.CrossRefPubMed
Metadata
Title
A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis
Authors
Samin Sharafian
Vahid Ziaee
Mohammad Shahrooei
Mahsa Ahadi
Nima Parvaneh
Publication date
01-01-2019
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0586-8

Other articles of this Issue 1/2019

Journal of Clinical Immunology 1/2019 Go to the issue