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.

  • Letter to the Editor
  • Published:

Prompt recovery of recipient hematopoiesis after two consecutive haploidentical peripheral blood SCTs in a child with leukocyte adhesion defect III syndrome

Bone Marrow Transplantation volume 45, pages 413–414 (2010)Cite this article

Leukocyte adhesion deficiency (LAD) type III is a rare syndrome characterized by severe recurrent infections, leukocytosis and increased bleeding tendency. All integrins are normally expressed; yet, a defect in their activation leads to the observed clinical manifestations.1 This specific genetic abnormality is a combined defect in both upstream and downstream integrin regulatory effectors, namely, CaIDAG-GEFI and Kindlin-3, respectively.2 Both these effectors have a role in regulating integrin activation in plts and leukocytes. Hematopoietic SCT (HSCT) is the only treatment that might correct this life-threatening disease. Here, we present a report of a prompt recovery of recipient hematopoiesis after two haploidentical HSCTs performed in a 3.5-year-old girl with LAD III disease.

As previously described,1 this girl was born to second-degree consanguinous parents, and the diagnosis of LAD III was made after several recurrent infections and bleeding episodes since birth and a family history of one sister who died at the age of 15 months after severe infection and massive pulmonary bleeding. In addition, both sisters showed increased bone density on skeletal survey. On admission, she presented with a swelling of her right mandible after a tooth extraction 2 months previously. A biopsy from this lesion revealed sub-acute inflammation with eosinophils, mononuclear infiltration and no malignancy. Wound culture demonstrated pseudomonas, for which she was treated with pipracillin together with tazobactam. Blood count revealed a WBC count of 36 × 109/l, hemoglobin of 10.4 g per 100 ml and a plt count of 354 × 109/l. Bleeding time was >10 min. As she did not have a matched sibling donor, it was decided to perform a haploidentical peripheral blood SCT (PBSCT) from her mother. Peripheral stem cells were collected after priming with G-CSF, and T-cell depletion was performed by a positive selection of CD34+ cells with immunomagnetic beads. Conditioning regimen before the first transplantation included i.v. melphalan 140 mg/m2, i.v. thiotepa 10 mg/m2, i.v. fludarabine 200 mg/m2 and i.v. ATG (Fresenius, Bad Homburg, Germany) 25 mg/m2. On day 0, she received 18.3 × 106 CD34+ cells/kg. Except for fever and neutropenia, treated with broad-spectrum antibiotic therapy, no other complications occurred. She did not engraft and her own marrow recovered 4 weeks after transplantation.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. Kilic SS EA . The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CaIDAG-GEF1. J Clin Immunol 2009; 29: 117–122.

    Article  PubMed  Google Scholar 

  2. Mory A, Feigelson SW, Yarali N, Kilic SS, Bayhan GI, Gershoni-Baruch R et al. Kindlin-3: a new gene involved in the pathogenesis of LAD-III. Blood 2008; 112: 2591.

    Article  CAS  PubMed  Google Scholar 

  3. Thomas C, Le Deist F, Cavazzana-Calvo M, Benkerrou M, Haddad E, Blanche S et al. Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency. Blood 1995; 86: 1629–1635.

    CAS  PubMed  Google Scholar 

  4. Farinha NJ, Duval M, Wagner E, Champagne J, Lapointe N, Barrette S et al. Unrelated bone marrow transplantation for leukocyte adhesion deficiency. Bone Marrow Transplant 2002; 30: 979–981.

    Article  CAS  PubMed  Google Scholar 

  5. Kuijpers TW, van Bruggen R, Kamerbeek N, Tool AT, Hicsonmez G, Gurgey A et al. Natural history and early diagnosis of LAD-1/variant syndrome. Blood 2007; 109: 3529–3537.

    Article  CAS  PubMed  Google Scholar 

  6. Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK et al. LAD-1/variant syndrome is caused by mutations in FERMT3. Blood 2008.

  7. Driessen GJ, Gerritsen EJ, Fischer A, Fasth A, Hop WC, Veys P et al. Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant 2003; 32: 657–663.

    Article  CAS  PubMed  Google Scholar 

  8. Lucarelli G, Andreani M, Angelucci E . The cure of thalassemia by bone marrow transplantation. Blood Rev 2002; 16: 81–85.

    Article  CAS  PubMed  Google Scholar 

  9. Sodani P, Gaziev D, Polchi P, Erer B, Giardini C, Angelucci E et al. New approach for bone marrow transplantation in patients with class 3 thalassemia aged younger than 17 years. Blood 2004; 104: 1201–1203.

    Article  CAS  PubMed  Google Scholar 

  10. Gaziev D, Galimberti M, Lucarelli G, Polchi P, Giardini C, Angelucci E et al. Bone marrow transplantation from alternative donors for thalassemia: HLA-phenotypically identical relative and HLA-nonidentical sibling or parent transplants. Bone Marrow Transplant 2000; 25: 815–821.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatric Hemato-Oncology, Rambam Health Care Campus, Haifa, Israel

    R Elhasid, M Ben-Arush & A Etzioni

  2. Department of Hematology and Bone Marrow Transplantation, Rambam Health Care Campus, Haifa, Israel

    J M Rowe

  3. Department of Pediatric Immunology, Uludag University School of Medicine, Bursa, Turkey

    S S Kilic

  4. Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel

    R Elhasid, M Ben-Arush, A Etzioni & J M Rowe

Authors
  1. R Elhasid
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S S Kilic
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M Ben-Arush
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A Etzioni
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J M Rowe
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to R Elhasid.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Elhasid, R., Kilic, S., Ben-Arush, M. et al. Prompt recovery of recipient hematopoiesis after two consecutive haploidentical peripheral blood SCTs in a child with leukocyte adhesion defect III syndrome. Bone Marrow Transplant 45, 413–414 (2010). https://doi.org/10.1038/bmt.2009.160

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/bmt.2009.160

This article is cited by

Search

Advanced search

Quick links