Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India

Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2009;15(1 Suppl):84–90. https://doi.org/10.1016/j.bbmt.2008.10.007.

Article  PubMed  Google Scholar 

Notarangelo LD, Mazza C, Giliani S, et al. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood. 2002;99:2268–9.

Article  PubMed  CAS  Google Scholar 

Wada T, Itoh M, Maeba H, Toma T, Niida Y, Saikawa Y, Yachie A. Intermittent X-linked thrombocytopenia with a novel WAS gene mutation. Pediatr Blood Cancer. 2014;61(4):746–8. https://doi.org/10.1002/pbc.24787.

Article  PubMed  CAS  Google Scholar 

Gismondi A, Cifaldi L, Mazza C, Giliani S, Parolini S, Morrone S, Jacobelli J, Bandiera E, Notarangelo L, Santoni A. Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect. Blood. 2004;104(2):436–43.

Article  PubMed  CAS  Google Scholar 

Maillard MH, Cotta-de-Almeida V, Takeshima F, Nguyen DD, Michetti P, Nagler C, Bhan AK, Snapper SB. The Wiskott-Aldrich syndrome protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells. J Exp Med. 2007;204(2):381–91.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004;104:4010–9.

Article  PubMed  CAS  Google Scholar 

Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, Bhatia P, Khadwal A, Raj R, Uppuluri R, Desai M, Taur P, Pandrowala AA, Gowri V, Madkaikar MR, Lashkari HP, Bhattad S, Kumar H, Verma S, Imai K, Nonoyama S, Ohara O, Chan KW, Lee PP, Lau YL, Singh S. Wiskott Aldrich Syndrome: a multi-institutional experience from India. Front Immunol. 2021;16(12):627651. https://doi.org/10.3389/fimmu.2021.627651.

Article  CAS  Google Scholar 

Jodhawat N, Bargir UA, Setia P, Taur P, Bala N, Madkaikar A, Yadav RM, Dalvi A, Shinde S, Gupta M, Shelar S, Kambli P, Gowri V, Lokeshwar M, Satoskar P, Desai M, Madkaikar M. Normative data for paediatric lymphocyte subsets: a pilot study from western India. Indian J Med Res. 2023;158(2):161–74. https://doi.org/10.4103/ijmr.ijmr_3282_21.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Senior AW, et al. Improved protein structure prediction using potentials from deep learning. Nature. 2020;577(7792):706–10.

Article  PubMed  CAS  Google Scholar 

Schrödinger, LLC. Schrödinger Release 2022-3: Desmond Molecular Dynamics System. Schrödinger, LLC. D.E. Shaw Research: New York, NY, USA. 2021

Mark P, Nilsson L. Structure and Dynamics of the TIP3P, SPC, and SPC/E Water Models at 298 K. J Phys Chem A. 2001;105(43):9954–60.

Article  CAS  Google Scholar 

Wardi Y. A stochastic steepest-descent algorithm. J Optim Theory Appl. 1988;59(2):307–23.

Article  Google Scholar 

Bosko JT, Todd BD, Sadus RJ. Molecular simulation of dendrimers and their mixtures under shear: Comparison of isothermal-isobaric (NpT) and isothermal-isochoric (NVT) ensemble systems. J Chem Phys. 2005;123(3):034905.

Article  Google Scholar 

Buchbinder D, Nugent DJ, Fillipovich AH. Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet. 2014;3(7):55–66. https://doi.org/10.2147/TACG.S58444.

Article  Google Scholar 

Consiglieri G, Ferrua F, San Raffaele Hospital Consortium et al. A Case of two adult brothers with wiskott-aldrich syndrome, one treated with gene therapy and one with HLA-Identical hematopoietic stem cell transplantation. J Clin Immunol. 2022; 42:421–425. https://doi.org/10.1007/s10875-021-01157-6

Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A muti iinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125(6 Pt 1):876–85.

Article  PubMed  CAS  Google Scholar 

Biber G, Ben-Shmuel A, Noy E, Joseph N, Puthenveetil A, Reiss N, Levy O, Lazar I, Feiglin A, Ofran Y, Kedmi M, Avigdor A, Fried S, Barda-Saad M. Targeting the actin nucleation promoting factor WASp provides a therapeutic approach for hematopoietic malignancies. Nat Commun. 2021;12(1):5581. https://doi.org/10.1038/s41467-021-25842-7.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Keszei M, Kritikou JS, Sandfort D, He M, Oliveira MMS, Wurzer H, Kuiper RV, Westerberg LS. Wiskott-Aldrich syndrome gene mutations modulate cancer susceptibility in the p53± murine model. Oncoimmunology. 2018;7(9):e1468954. https://doi.org/10.1080/2162402X.2018.1468954.

Article  PubMed  PubMed Central  Google Scholar 

Basu S, Rikhi R, Arora K, et al. Wiskott-Aldrich syndrome protein expression in female WAS carriers: a flow cytometry study from North India. Pediatr Blood Cancer. 2024;71:e30972. https://doi.org/10.1002/pbc.30972.

Article  PubMed  CAS  Google Scholar 

Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH. Non random inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood. 1995;85:2471.

Article  PubMed  CAS  Google Scholar 

Yamada M, Ariga T, Kawamura N, et al. Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells. J Immunol. 2000;165(2):1119–22.

Article  PubMed  CAS  Google Scholar 

Rong SB, Vihinen M. Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain. J Mol Med (Berl). 2000;78(9):530–7. https://doi.org/10.1007/s001090000136.

Article  PubMed  CAS  Google Scholar 

Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004; 104(13):4010–4019. https://doi.org/10.1182/blood-2003-05-1592

Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, Dávila Saldaña BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJ. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood. 2020;135(23):2094–105. https://doi.org/10.1182/blood.2019002939.

Article  PubMed  PubMed Central  Google Scholar 

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