Bone Marrow Transplantation for Severe Combined Immune Deficiency

Grunebaum, Eyal; Mazzolari, Evelina; Porta, Fulvio; Dallera, Daniela; Atkinson, Adelle; Reid, Brenda; Notarangelo, Luigi D.; Roifman, Chaim M.

doi:10.1001/jama.295.5.508

Cited by 215 publications

(179 citation statements)

References 36 publications

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“…Indeed, interstitial pneumonitis is the most frequent cause of death in patients who received MMRD BMT. 24,31 In contrast, we show here that on average T þ CID patients experienced only one major episode of infection or less while convalescing from MUD BMT.…”

Section: Discussioncontrasting

confidence: 63%

“…This study, which reports the largest group of patients with T þ CID to have undergone MUD BMT, reveals a survival rate of 100% using this procedure, which is superior to 77-80.5% survival reported in MUD BMT for all types of SCID. 23,24 Survival of SCID patients undergoing MMRD BMT has been reported to vary between 12.5 and 78% in single centers, while multicenter trials showed approximately 50% survival rate over the past two decades. 3,18,24,25 The survival of T þ CID in these cohorts have been estimated to be even lower.…”

Section: Discussionmentioning

confidence: 99%

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Matched unrelated bone marrow transplant for T+ combined immunodeficiency

Roifman

Somech

Grunebaum

2008

Bone Marrow Transplant

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Little information is currently available on the outcome and the long-term restoration of immune function in infants with combined immunodeficiency and residual T cells (T þ CID) treated by BMT. We prospectively followed patients with T þ CID who received matched unrelated donor BMT at our center. Engraftment, immune reconstitution and transplant-related complications were recorded. Humoral and cellular immunity were evaluated. Ten patients with combined immune deficiency who had more than 1000 circulating T cells/ll were designated as having T þ CID. They were diagnosed at a mean age of 9.7 months and received a matched unrelated donor BMT at the mean age of 17.4 months. All 10 patients are alive and well at a mean of 110 months after transplant. All patients have evidence of full hemopoietic engraftment and robust immune function. We have shown here that matched unrelated donor BMT is highly effective in curing patients with T þ CID. This mode of treatment should be preferred for patients with T þ CID when a related identical donor is not available.

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Section: Discussioncontrasting

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Matched unrelated bone marrow transplant for T+ combined immunodeficiency

Roifman

Somech

Grunebaum

2008

Bone Marrow Transplant

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“…Consistent with results we have obtained in other types of profound T-cell immunodeficiencies, 17,18 MUD transplants provided rapid engraftment and long-term robust and sustained immune function in our patients with CHH.…”

Section: Discussionsupporting

confidence: 92%

Bone marrow transplantation for cartilage-hair-hypoplasia

Guggenheim

Somech

Grunebaum

et al. 2006

Bone Marrow Transplant

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The association of cartilage hair hypoplasia (CHH) with severe combined immunodeficiency (SCID) has been known for more than three decades. Bone marrow transplantation (BMT) remains the only effective treatment that might cure SCID. Surprisingly little has been reported on the experience with BMT in CHH. We report here survival and long-term reconstitution of immunity after BMT in three patients with CHH. Regardless of whether a related human leukocyte antigen-matched or unrelated matched donors were used as the source of BMT, all patients are alive and well 5-20 years after BMT. Engraftment appears robust with most cells of donors origin. Repeated evaluation of the immune system showed normal cellular and humoral immunity. Our results should encourage the use of BMT in patients with CHH who have profound immunodeficiency.

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“…Human HSPC are commonly exploited for allogeneic and autologous transplantation, including GT as they have high differentiation and proliferation potential, long‐term survival capacity and self‐renewal ability 18, 21, 22, 24. They are phenotypically characterized by the absence of mature lineage markers (LIN‐) and by the expression of the CD34 molecule.…”

mentioning

confidence: 99%

Multiparametric Whole Blood Dissection: A one‐shot comprehensive picture of the human hematopoietic system

et al. 2017

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Human hematopoiesis is a complex and dynamic system where morphologically and functionally diverse mature cell types are generated and maintained throughout life by bone marrow (BM) Hematopoietic Stem/Progenitor Cells (HSPC). Congenital and acquired hematopoietic disorders are often diagnosed through the detection of aberrant frequency or composition of hematopoietic cell populations. We here describe a novel protocol, called “Whole Blood Dissection” (WBD), capable of analyzing in a single test‐tube, hematopoietic progenitors and all major mature cell lineages composing either BM or peripheral blood (PB) through a multiparametric flow‐cytometry analysis. WBD allows unambiguously identifying in the same tube up to 23 different blood cell types including HSPC subtypes and all the major myeloid and lymphoid lineage compartments at different stages of maturation, through a combination of 17 surface and 1 viability cell markers. We assessed the efficacy of WBD by analyzing BM and PB samples from adult (n = 8) and pediatric (n = 9) healthy donors highlighting age‐related shift in cell composition. We also tested the capability of WBD on detecting aberrant hematopoietic cell composition in clinical samples of patients with primary immunodeficiency or leukemia unveiling expected and novel hematopoietic unbalances. Overall, WBD allows unambiguously identifying >99% of the cell subpopulations composing a blood sample in a reproducible, standardized, cost‐, and time‐efficient manner. This tool has a wide range of potential pre‐clinical and clinical applications going from the characterization of hematopoietic disorders to the monitoring of hematopoietic reconstitution in patients after transplant or gene therapy. © 2017 The Authors. Cytometry Part A Published by Wiley Periodicals, Inc. on behalf of ISAC.

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Bone Marrow Transplantation for Severe Combined Immune Deficiency

Abstract: Our study suggests that in the absence of a relative with identical HLA, MUD BMT may provide better engraftment, immune reconstitution, and survival for patients with SCID than MMRD BMT.

Cited by 215 publications

References 36 publications

Matched unrelated bone marrow transplant for T+ combined immunodeficiency

Matched unrelated bone marrow transplant for T+ combined immunodeficiency

Bone marrow transplantation for cartilage-hair-hypoplasia

Multiparametric Whole Blood Dissection: A one‐shot comprehensive picture of the human hematopoietic system

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