Associated Papers
Generation of complex bone marrow organoids from human induced pluripotent stem cells.
Frenz-Wiessner S et al.
Nature Methods, 2024
Successful Hematopoietic Cell Transplantation for Infantile Primary Myelofibrosis/VPS45 Deficiency: Case Report and Review of Literature.
Hashem H et al.
Journal of Clinical Immunology, 2023
Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry.
Yenwongfai LN et al.
Pediatric Blood & Cancer, 2023
A humanized Caenorhabditis elegans model for studying pathogenic mutations in VPS45, a protein essential for membrane trafficking, associated with severe congenital neutropenia.
Gengyo-Ando K et al.
Micropublication Biology, 2023
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros LA et al.
Journal of Clinical Immunology, 2022
Mammalian VPS45 orchestrates trafficking through the endosomal system.
Frey L et al.
Blood, 2021
Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation.
NaserEddin A et al.
Journal of Clinical Immunology, 2021
A rare form of congenital neutropenia: VPS45 deficiency.
Karaatmaca B et al.
Scandinavian Journal of Immunology, 2020
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
Çipe FE et al.
The Turkish Journal of Pediatrics, 2020
Erratum to correct "How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45".
Unknown Author
Pediatric Blood & Cancer, 2019
How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.
Shadur B et al.
Pediatric Blood & Cancer, 2019
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.
Shah RK et al.
Pediatric Blood & Cancer, 2017
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
Meerschaut I et al.
American Journal of Medical Genetics. Part A, 2015
VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation.
Stepensky P et al.
Pediatric Transplantation, 2013
A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T et al.
The New England Journal of Medicine, 2013
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
Stepensky P et al.
Blood, 2013
HAX1 mutation in an infant with severe congenital neutropenia.
Eghbali A et al.
The Turkish Journal of Pediatrics, 0
Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report.
Alotaibi FA et al.
International Journal of Clinical Pediatric Dentistry, 0