과제정보
We thank Miltenyi Biotec who kindly provided the CD45RA depletion kit.
참고문헌
- McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/ velocardiofacial syndrome). Medicine (Baltimore) 2011;90:1-18. https://doi.org/10.1097/MD.0b013e3182060469
- Davies EG. Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Front Immunol 2013;4:322.
- Markert ML, Sarzotti M, Ozaki DA, Sempowski GD, Rhein ME, Hale LP, et al. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood 2003;102:1121-30. https://doi.org/10.1182/blood-2002-08-2545
- Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 2007;109:4539-47. https://doi.org/10.1182/blood-2006-10-048652
- Land MH, Garcia-Lloret MI, Borzy MS, Rao PN, Aziz N, McGhee SA, et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol 2007;120:908-15. https://doi.org/10.1016/j.jaci.2007.08.048
- Janda A, Sedlacek P, Honig M, Friedrich W, Champagne M, Matsumoto T, et al. Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly. Blood 2010;116:2229-36. https://doi.org/10.1182/blood-2010-03-275966
- Chitty-Lopez M, Duff C, Vaughn G, Trotter J, Monforte H, Lindsay D, et al. Case report: unmanipulated matched sibling donor hematopoietic cell transplantation in TBX1 congenital athymia: a lifesaving therapeutic approach when facing a systemic viral infection. Front Immunol 2022;12:721917.
- Brodszki N, Turkiewicz D, Toporski J, Truedsson L, Dykes J. Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions. Orphanet J Rare Dis 2016;11:5.
- Hosaka S, Kobayashi C, Saito H, Imai-Saito A, Suzuki R, Iwabuchi A, et al. Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion. Pediatr Transplant 2019;23:e13424.
- Ip W, Zhan H, Gilmour KC, Davies EG, Qasim W. 22q11.2 deletion syndrome with life-threatening adenovirus infection. J Pediatr 2013;163:908-10. https://doi.org/10.1016/j.jpeds.2013.03.070
- Park HJ, Hong KT, Yun SO, Ahn HY, Choi JY, Shin HY, et al. Successful treatment of refractory CMV colitis after haploidentical HSCT with post-transplant cyclophosphamide using CD45RA+ depleted donor lymphocyte infusion. Bone Marrow Transplant 2020;55:1674-6. https://doi.org/10.1038/s41409-019-0685-z
- Bensoussan D, Le Deist F, Latger-Cannard V, Gregoire MJ, Avinens O, Feugier P, et al. T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome. Br J Haematol 2002;117:899-906. https://doi.org/10.1046/j.1365-2141.2002.03496.x
- Janda A, Sedlacek P, Mejstrikova E, Zdrahalova K, Hrusak O, Kalina T, et al. Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatr Transplant 2007;11:441-7. https://doi.org/10.1111/j.1399-3046.2007.00702.x
- Daguindau N, Decot V, Nzietchueng R, Ferrand C, Picard C, Latger-Cannard V, et al. Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up. Clin Immunol 2008;128:164-71. https://doi.org/10.1016/j.clim.2008.03.524
- Davies EG, Cheung M, Gilmour K, Maimaris J, Curry J, Furmanski A, et al. Thymus transplantation for complete DiGeorge syndrome: European experience. J Allergy Clin Immunol 2017;140:1660-1670.e16. https://doi.org/10.1016/j.jaci.2017.03.020
- Ohtsuka Y, Shimizu T, Nishizawa K, Ohtaki R, Someya T, Noguchi A, et al. Successful engraftment and decrease of cytomegalovirus load after cord blood stem cell transplantation in a patient with DiGeorge syndrome. Eur J Pediatr 2004;163:747-8. https://doi.org/10.1007/s00431-004-1524-8
- Gul KA, Overland T, Osnes L, Baumbusch LO, Pettersen RD, Lima K, et al. Neonatal levels of T-cell receptor excision circles (TREC) in patients with 22q11.2 deletion syndrome and later disease features. J Clin Immunol 2015;35:408-15. https://doi.org/10.1007/s10875-015-0153-5
- Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010-2017. Pediatrics 2019;143:143.