Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Original Article
  • Published:

Reticular Dysgenesis

Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients

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

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

  1. De Vaal OM, Seynhaeve V . Reticular dysgenesia Lancet 1959 ii: 1123 1125

    Article  Google Scholar 

  2. Gitlin D, Vawter G, Craig JM . Thymic alymphoplasia and congenital aleukocytosis Pediatrics 1964 33: 184 191

    CAS  PubMed  Google Scholar 

  3. Levinsky RJ, Tiedeman K . Successful bone marrow transplantation for reticular dysgenesis Lancet 1983 i: 671 672

    Article  Google Scholar 

  4. 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

    Article  CAS  Google Scholar 

  5. De Santes KB, Lai SS, Cowan MJ . Haploidentical bone marrow transplantation for two patients with reticular dysgenesis Bone Marrow Transplant 1996 17: 1171 1173

    CAS  PubMed  Google Scholar 

  6. 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

    Article  CAS  Google Scholar 

  7. Alonso K, Dew JM, Starke WR . Thymic alymphoplasia and congenital aleukocytosis (reticular dysgenesia) Arch Pathol 1972 94: 179 183

    CAS  PubMed  Google Scholar 

  8. Haas RJ, Niethammer D, Goldmann SF et al. Congenital immunodeficiency and agranulocytosis (reticular dysgenesia) Act Paediatr Scand 1977 66: 279 283

    Article  CAS  Google Scholar 

  9. 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

    Article  CAS  Google Scholar 

  10. Espanol T, Compte J, Alvarez C et al. Reticular dysgenesis: report of two brothers Clin Exp Immunol 1979 38: 615 620

    CAS  PubMed  PubMed Central  Google Scholar 

  11. 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

    Article  CAS  Google Scholar 

  12. 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

    CAS  Google Scholar 

  13. 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

    Article  CAS  Google Scholar 

  14. 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

    Article  CAS  Google Scholar 

  15. 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

    Article  CAS  Google Scholar 

  16. 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

    Article  CAS  Google Scholar 

  17. 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

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints 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

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.bmt.1703531

Keywords

Search

Quick links