Search results for "diak-Higashi syndrome"

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Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …

2021

Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…

0301 basic medicineCHSLYSTCase ReportHemophagocytic lymphohistiocytosis030105 genetics & hereditymedicine.disease_causeLoss of heterozygosityExonCh&#233diak-Higashi syndromeImmunology and AllergyMissense mutation:Genetic Phenomena::Genetic Phenomena::Inheritance Patterns::Genes Recessive [PHENOMENA AND PROCESSES]Genetics:fenómenos genéticos::fenómenos genéticos::patrones de herencia::genes recesivos [FENÓMENOS Y PROCESOS]MutationPrimary immunodeficiencySistema inmune - Enfermedades - Diagnóstico.Loss of heterozygosityChédiak-Higashi Síndrome de - Diagnóstico.:enfermedades del sistema inmune::síndromes de inmunodeficiencia::disfunción bactericida del fagocito::síndrome de Chediak-Higashi [ENFERMEDADES]Uniparental disomyImmune system - Diseases - Diagnosis.Chromosome abnormalities.loss of heterozygositySNP array:fenómenos genéticos::variación genética::mutación::aberraciones cromosómicas::disomía uniparental [FENÓMENOS Y PROCESOS]lcsh:Immunologic diseases. AllergyAnomalías y malformaciones cromosómicas.disomia uniparentaluniparental disomy:Immune System Diseases::Immunologic Deficiency Syndromes::Phagocyte Bactericidal Dysfunction::Chediak-Higashi Syndrome [DISEASES]ImmunologyChédiak-Higashi syndromeSingle-nucleotide polymorphismBiologyprimary immunodeficiency03 medical and health sciencesMalalties immunològiquesmedicineGenetic disorders - Diagnosis.Béguez-Chédiak-Higashi syndrome - Diagnosis.Uniparental disomymedicine.diseaseSNP-array030104 developmental biologyAnomalies cromosòmiquesUniparental Isodisomyhemophagocytic lymphohistiocytosisEnfermedades genéticas - Diagnóstico.lcsh:RC581-607:Genetic Phenomena::Genetic Variation::Mutation::Chromosome Aberrations::Uniparental Disomy [PHENOMENA AND PROCESSES]
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Failure of sustained engraftment after non-myeloablative conditioning with low-dose TBI and T cell-reduced allogeneic peripheral stem cell transplant…

2001

We investigated whether a T cell-reduced allogeneic stem cell transplant (SCT) with minimal conditioning and subsequent donor lymphocyte infusions (DLI) could reduce the incidence and severity of GVHD while retaining stable engraftment. Five patients with hematological malignancies (three MM, one CLL, one Chediak-Higashi syndrome) were conditioned with TBI (200 cGy). One patient additionally received fludarabine (120 mg/m(2)). CsA and mofetyl-mycophenolate (MMF) were administered to prevent GVHD. All patients were grafted with >3 x 10(6)/kg highly purified CD34(+) cells together with 2 x 10(6)/kg CD3(+) cells (three patients) or 1 x 10(5)/kg CD3(+) cells (two patients). Quick hematopoietic …

AdultMaleTime FactorsLymphocyte TransfusionT-LymphocytesT cellLymphocyteChronic lymphocytic leukemiamedicine.medical_treatmentHematopoietic stem cell transplantationLymphocyte DepletionFatal OutcomemedicineHumansTransplantation HomologousTreatment FailureTransplantation ChimeraTransplantationbusiness.industryHematopoietic Stem Cell TransplantationHematologyMiddle AgedMycophenolic Acidmedicine.diseaseLeukemia Lymphocytic Chronic B-CellPeripheral stem cell transplantationFludarabineTransplantationmedicine.anatomical_structureHematologic NeoplasmsLymphocyte TransfusionImmunologyCyclosporineFemaleChediak-Higashi SyndromeMultiple MyelomabusinessImmunosuppressive AgentsVidarabineWhole-Body IrradiationFollow-Up Studiesmedicine.drugBone Marrow Transplantation
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