Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship

Kuijpers, Taco W.; Alders, Mariel; Tool, Anton T.J.; Mellink, Clemens; Roos, Dirk; Hennekam, Raoul C. M.

doi:10.1182/blood-2004-11-4371

Cited by 84 publications

(83 citation statements)

References 28 publications

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“…[37][38][39] However, with widespread availability of genetic testing, it may be possible to collect this data in a prospective fashion to see if there is a correlation between genotype and outcome, particularly treatment-related toxicity. However, such efforts are likely to be limited due to the rarity of SDS.…”

Section: Discussionmentioning

confidence: 99%

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman–Diamond syndrome

Bhatla

Davies

Shenoy

et al. 2008

Bone Marrow Transplant

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Section: Discussionmentioning

confidence: 99%

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman–Diamond syndrome

Bhatla

Davies

Shenoy

et al. 2008

Bone Marrow Transplant

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“…17 NADPH-oxidase activity was assessed as the release of hydrogen peroxide, determined by an Amplex Red kit (Molecular Probes, Eugene, OR, USA) as described previously. …”

Section: Standard Granulocyte Chemotaxis and Nadph Oxidase Activitymentioning

confidence: 99%

Granulocyte concentrates: prolonged functional capacity during storage in the presence of phenotypic changes

Drewniak¹,

Boelens²,

Vrielink³

et al. 2008

Haematologica

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BackgroundGranulocyte transfusion has been proposed as a bridging therapy for patients with prolonged periods of chemotherapy-induced neutropenia, who suffer from severe fungal and bacterial infections. To recover, adequate numbers of granulocytes are required when the patients are refractory to standard treatment. The aim of this study was to assess the functional characteristics and efficacy of granulocyte colony-stimulating factor/dexamethasone-mobilized granulocytes used for transfusions.

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“…There are no obvious genotypephenotype correlations. 8,9 While granulocyte cell motility is abnormal in SDS patients 3 other defects are less well defined. It is unclear whether apoptosis or aberrant stromal cell function plays a role in marrow failure in SDS.…”

mentioning

confidence: 99%

Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome

Vibhakar

Radhi

Rumelhart

et al. 2005

Bone Marrow Transplant

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Summary:Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic insufficiency and variable degrees of neutropenia. SDS patients are at risk of developing myelodysplasia, aplastic anemia, and leukemic transformation. The role and timing of allogeneic hematopoietic stem cell transplantation (HSCT) in SDS remain controversial. We report three SDS patients with severe aplasia transplanted using unrelated umbilical cord blood (UCB). Patients received melphalan (180 mg/m 2 ), etoposide (1200 mg/m 2 ), antithymocyte globulin (90 mg/kg), and total lymphoid irradiation (500 cGy); graft-versus-host disease (GVHD) prophylaxis consisted of cyclosporine and prednisone. Myeloid engraftment occurred promptly with absolute neutrophil count 4500 cells/mm 3 on day 1575 and all patients displayed 100% donor chimerism by 2 months post transplant. The major complication of transplant was GVHD, with all patients developing grade II or III acute GVHD, one progressing to chronic extensive GVHD. Patients are alive 309, 623, and 2029 days post transplant. Factors important in HSCT outcome for SDS may include transplantation at a young age, avoidance of cyclophosphamide, and adequate GVHD prophylaxis. Importantly, these cases also suggest that unrelated UCB, in the absence of a matched family member, is an excellent alternative stem cell source for SDS patients undergoing HSCT. Bone Marrow Transplantation (2005) 36, 855-861.

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Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship

Abstract: Shwachman-Diamond syndrome (SDS) is

Cited by 84 publications

References 28 publications

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman–Diamond syndrome

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman–Diamond syndrome

Granulocyte concentrates: prolonged functional capacity during storage in the presence of phenotypic changes

Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome

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