Abstract
Reticular dysgenesis is a very rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCID) and characterized by impairment of both lymphoid and myeloid cell development. We report our experience in 10 patients with RD, treated between 1979 and 1999 with HLA-haploidentical hematopoietic stem cell transplantation (HSCT). All children but one were symptomatic within the first days of their lives. Five patients required two HSCT. Five patients received conditioning therapy with busulfan (16 mg/kg) and cyclophosphamide. Three of them are alive and well with myeloid and T and B cell lymphoid reconstitution, whereas two patients died (one chronic graft-versus-host disease, one pneumonitis). Transplantation without or with other conditioning regimens in the other five cases led to absent or incomplete engraftment and none of these cases survived. These results demonstrate the mandatory need for intensive conditioning before haploidentical HSCT in RD to achieve full lymphoid and myeloid engraftment.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$259.00 per year
only $21.58 per issue
Rent or buy this article
Prices vary by article type
from$1.95
to$39.95
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
De Vaal OM, Seynhaeve V . Reticular dysgenesia Lancet 1959 ii: 1123 1125
Gitlin D, Vawter G, Craig JM . Thymic alymphoplasia and congenital aleukocytosis Pediatrics 1964 33: 184 191
Levinsky RJ, Tiedeman K . Successful bone marrow transplantation for reticular dysgenesis Lancet 1983 i: 671 672
Friedrich W, Goldmann SF, Ebell W et al. Severe combined immunodeficiency: treatment by bone marrow transplantation in 15 infants using HLA-haploidentical donors Eur J Pediatr 1985 144: 125 130
De Santes KB, Lai SS, Cowan MJ . Haploidentical bone marrow transplantation for two patients with reticular dysgenesis Bone Marrow Transplant 1996 17: 1171 1173
Small TN, Wall DA, Kurtzberg J et al. Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness J Pediatr 1999 135: 387 389
Alonso K, Dew JM, Starke WR . Thymic alymphoplasia and congenital aleukocytosis (reticular dysgenesia) Arch Pathol 1972 94: 179 183
Haas RJ, Niethammer D, Goldmann SF et al. Congenital immunodeficiency and agranulocytosis (reticular dysgenesia) Act Paediatr Scand 1977 66: 279 283
Ownby DR, Pizzo S, Blackmon L et al. Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings J Pediatr 1976 89: 382 387
Espanol T, Compte J, Alvarez C et al. Reticular dysgenesis: report of two brothers Clin Exp Immunol 1979 38: 615 620
Niehues T, Schwarz K, Schneider M et al. Severe combined immunodeficiency (SCID) associated neutropenia: a lesson from monozygotic twins Arch Dis Child 1996 74: 340 342
Heymer B, Friedrich W, Knobloch C, Goldmann SF . Reticular dysgenesis: primary disorder in differentiation of hematopoietic stem cells? Verh Dtsch Ges Path 1990 74: 106 110
De La Calle Martin O, Badell I, Garcia A et al. B cells and monocytes are not developmentally affected in a case of reticular dysgenesis Clin Exp Immunol 1997 110: 392 396
Roper M, Parmley RT, Crist WM et al. Severe combined leukopenia (reticular dysgenesis). Immunologic and morphologic characterizations of leukocytes Am J Dis Child 1985 139: 832 835
Bujan W, Ferster A, Azzi N et al. Use of recombinant human granulocyte colony-stimulating factor in reticular dysgenesis Br J Haematol 1992 81: 128 129
Buckley RH, Schiff SE, Schiff RI et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency New Engl J Med 1999 340: 508 516
Bertrand Y, Landais P, Friedrich W et al. Influence of SCID phenotype on the outcome of HLAnon identical, T-cell depleted bone marrow transplantation. A retrospective European survey from the EBMT and the ESID J Pediatr 1999 134: 740 748
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bertrand, Y., Müller, S., Casanova, J. et al. Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients. Bone Marrow Transplant 29, 759–762 (2002). https://doi.org/10.1038/sj.bmt.1703531
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.bmt.1703531