The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT

Bakhtiar, Shahrzad; Shadur, Bella; Stepensky, Polina

doi:10.3389/fped.2019.00436

Cited by 12 publications

(9 citation statements)

References 73 publications

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“…In a recent international study in LAD, excellent survival was reported in matched donor HSCT [ 10 ]. As in CGD, insufficiently controlled inflammation pretransplant may have an unfavorable impact on the risk for graft failure and aGVHD [ 76 ].…”

Section: Disease Category Specific Recommendationsmentioning

confidence: 99%

EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity

Lankester

Albert²,

Booth

et al. 2021

Bone Marrow Transplant

128

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Section: Disease Category Specific Recommendationsmentioning

confidence: 99%

EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity

Lankester

Albert²,

Booth

et al. 2021

Bone Marrow Transplant

128

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“…Currently, HCT is considered the only curative option for G6PC3 de ciency. 9 Typically, HCT is performed in children and adults with G6PC3 de ciency and in ammatory colitis in this GCSF-responsive neutropenia. [6][7][8] Although the neutrophils are GCSF-responsive, they exhibit an activated phenotype and accelerated apoptosis.…”

Section: Resultsmentioning

confidence: 99%

SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency

et al. 2022

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The energy metabolism of myeloid cells depends primarily on glycolysis. 1,5-anhydroglucitol (1,5AG), a natural monosaccharide is erroneously phosphorylated by glucose-phosphorylating enzymes to produce 1,5-anhydroglucitol-6-phosphate (1,5AG6P), a powerful inhibitor of hexokinases. The endoplasmic reticulum transporter (SLC37A4/G6PT) and the phosphatase G6PC3 co-operate to dephosphorylate 1,5AG6P. Failure to eliminate 1,5AG6P is the mechanism of neutrophil dysfunction and death in G6PC3de cient mice. SLGT2-inhibitor reduces 1,5AG level in the blood and restores the neutrophil count in G6PC3-de cient mice. In the investigator-initiated study, a 30 year-old G6PC3-de cient woman with recurrent infections, distressing gastrointestinal symptoms and multi-lineage cytopenia was treated with an SLGT2-inhibitor. A signi cant increase in all the hematopoietic cell lineages and substantial improvement in the quality of life was observed.

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“…Thus, the degree of immunosuppression should be carefully determined in HCT for LAD. It has been suggested that the use of thiotepa in the conditioning might be beneficial for its anti-inflammatory aspect ( 23 ). In our case, alemtuzumab was administered as a part of conditioning regimen.…”

Section: Discussionmentioning

confidence: 99%

Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I

Yamashita

Eguchi²,

Tomomasa³

et al. 2022

Front. Immunol.

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Leukocyte adhesion deficiency type I (LAD-I) is a rare autosomal recessive inborn error of immunity (IEI) caused by the defects in CD18, encoded by the ITGB2 gene. LAD-I is characterized by defective leukocyte adhesion to the vascular endothelium and impaired migration of leukocytes. Allogeneic hematopoietic cell transplant (HCT) is the only curative treatment for LAD-I. In an absence of ideal donor for HCT, human leukocyte antigen (HLA)-haploidentical HCT is performed. Posttransplant cyclophosphamide (PT-CY) is a relatively new graft-versus-host disease (GVHD) prophylactic measure and has been increasingly used in HLA-haploidentical HCT for malignant and nonmalignant diseases. However, experience in using PT-CY for rare IEIs, such as LAD-I, is very limited. We report a case of LAD-I successfully treated with HLA-haploidentical HCT with PT-CY. Complete chimerism was achieved, and the patient was cured. Her transplant course was complicated by mild GVHD, cytomegalovirus reactivation and veno-occlusive disease/sinusoidal obstruction syndrome, which were successfully treated. HLA-haploidentical HCT with PT-CY is a safe and effective option for patients with LAD-I when HLA-matched donors are unavailable.

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The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT

Cited by 12 publications

References 73 publications

EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity

EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity

SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency

Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I

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