Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
about
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersDNA ligase IV syndrome; a reviewMutations in the NHEJ component XRCC4 cause primordial dwarfismA patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIdentification of the DNA repair defects in a case of Dubowitz syndromeHematopoietic stem cell transplantation for primary immunodeficiency diseaseEvaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity.Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.Extreme growth failure is a common presentation of ligase IV deficiency.Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndromeRadiosensitive severe combined immunodeficiency disease.Hematopoietic stem cell transplantation for primary immunodeficiencies.Educational paper: syndromic forms of primary immunodeficiencyGenomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexityRadiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome.Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome.Clinical radiation sensitivity with DNA repair disorders: an overview.Primary immunodeficiencies associated with DNA-repair disorders.Primary immunodeficiency diseases associated with neurologic manifestations.Modern management of primary T-cell immunodeficiencies.The spatial organization of non-homologous end joining: from bridging to end joining.Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair.Successful outcome of allogeneic stem cell transplantation in Seckel syndrome.DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.Low-dose irradiation prior to bone marrow transplantation results in ATM activation and increased lethality in Atm-deficient mice.
P2860
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P2860
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Successful bone marrow transpl ...... ciency and bone marrow failure
@ast
Successful bone marrow transpl ...... ciency and bone marrow failure
@en
type
label
Successful bone marrow transpl ...... ciency and bone marrow failure
@ast
Successful bone marrow transpl ...... ciency and bone marrow failure
@en
prefLabel
Successful bone marrow transpl ...... ciency and bone marrow failure
@ast
Successful bone marrow transpl ...... ciency and bone marrow failure
@en
P2093
P2860
P356
P1476
Successful bone marrow transpl ...... ciency and bone marrow failure
@en
P2093
Astrid Bechtold
Bernd Gruhn
Detlev Schindler
Felix Zintl
Heidemarie Neitzel
Holger Hoehn
Holger Tönnies
Joerg Seidel
Raymonda Varon
P2860
P2888
P356
10.1186/1750-1172-2-5
P577
2007-01-15T00:00:00Z
P5875
P6179
1038437869