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Multicenter Study
. 2011 Nov;128(5):1050-7.
doi: 10.1016/j.jaci.2011.05.031. Epub 2011 Jul 16.

Hematopoietic stem cell transplantation for CD3δ deficiency

Nufar Marcus  1 , Hidetoshi Takada, Jason Law, Morton J Cowan, Juana Gil, Jose R Regueiro, Diego Plaza Lopez de Sabando, Eduardo Lopez-Granados, Jignesh Dalal, Wilhelm Friedrich, Hoenig Manfred, Imelda Celine Hanson, Eyal Grunebaum, William T Shearer, Chaim M Roifman
Affiliations
Multicenter Study

Hematopoietic stem cell transplantation for CD3δ deficiency

Nufar Marcus et al. J Allergy Clin Immunol. 2011 Nov.

Erratum in

  • J Allergy Clin Immunol. 2013 Nov;132(5):1259

Abstract

Background: CD3δ deficiency is a fatal form of severe combined immunodeficiency that can be cured by hematopoietic stem cell transplantation (HSCT). The presence of a thymus loaded with T-cell progenitors in patients with CD3δ deficiency may require special considerations in choosing the regimen of conditioning and the type of HSCT.

Objectives: To study the outcome of CD3δ deficiency by using various modalities of stem cell transplantation.

Methods: We analyzed data on 13 patients with CD3δ deficiency who underwent HSCT in 7 centers. HSCT was performed by using different sources of donor stem cells as well as various conditioning regimens.

Results: One patient received stem cells from a matched related donor and survived after a second transplant, needing substantial conditioning in order to engraft. Only 2 of 7 other patients who received a mismatched related donor transplant survived; 2 of them had no conditioning, whereas the others received various combinations of conditioning regimens. Engraftment of T cells in the survivors appears incomplete. Three other patients who received stem cells from a matched unrelated donor survived and enjoyed full immune reconstitution. Two patients received unrelated cord blood without conditioning. One of them has had a partial but stable engraftment, whereas the other engrafted well but is only 12 months after HSCT. We also report here for the first time that patients with CD3δ deficiency can present with typical features of Omenn syndrome.

Conclusions: HSCT is a successful treatment for patients with CD3δ deficiency. The small number of patients in this report prevents definitive statements on the importance of survival factors, but several are suggested: (1) HLA-matched donor transplants are associated with superior reconstitution and survival than are mismatched donor transplants; (2) substantial conditioning appears necessary; and (3) early diagnosis and absence of opportunistic infections may affect outcome.

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Figures

Figure 1
Figure 1. TCR Vβ repertoire with T cell subsets
TCR Vβ repertoire within CD4+ and CD8+ T populations was determined by flow cytometry using a collection of anti-TCR Vβ antibodies. Data shown within range or over represented (green) or under represented (red) in comparison with a normal age-matched control (empty bars) and the normal range (grey bars ± SD).
See this image and copyright information in PMC

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