Published in J Allergy Clin Immunol on February 01, 2005
Autologous Gene Therapy for Artemis-Deficient SCID | NCT03538899
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A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)). Immunogenetics (2015) 0.76
Detection of newly produced T and B lymphocytes by digital PCR in blood stored dry on nylon flocked swabs. J Transl Med (2017) 0.75
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STAT3 mutations in the hyper-IgE syndrome. N Engl J Med (2007) 8.99
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol (2009) 3.13
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Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood (2002) 2.11
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The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat Immunol (2008) 1.97
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Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med (2014) 1.81
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Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. J Exp Med (2010) 1.35
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol (2012) 1.30
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. BMC Med Genet (2007) 1.28
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. Blood (2011) 1.28
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The hyper IgE syndrome and mutations in TYK2. Immunity (2007) 1.21
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Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med (2008) 1.08
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Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med (2008) 1.06
Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome. Pediatrics (2006) 1.04
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Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6. Mol Cell Probes (2005) 0.99
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet (2006) 0.97
Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol (2006) 0.96
Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency. Clin Immunol (2004) 0.93
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. J Allergy Clin Immunol (2013) 0.92
Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol (2004) 0.92
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia). Clin Immunol (2005) 0.91
The hyper-IgE syndrome is not caused by a microdeletion syndrome. Immunogenetics (2007) 0.89
Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome. Am J Hematol (2007) 0.89
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. Genet Med (2011) 0.88
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A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. J Hum Genet (2006) 0.83
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A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency. Pediatr Transplant (2014) 0.81
Successes and risks of gene therapy in primary immunodeficiencies. J Allergy Clin Immunol (2004) 0.81
Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow. Proc Natl Acad Sci U S A (2002) 0.80
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A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency. Pediatr Transplant (2014) 0.79
Bone density and fractures in autosomal dominant hyper IgE syndrome. J Clin Immunol (2014) 0.78
Coronin-1A: immune deficiency in humans and mice. J Clin Immunol (2015) 0.78
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Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice. Eur J Immunol (2002) 0.77
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. Pediatr Transplant (2011) 0.77
Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing. Pediatrics (2016) 0.75
IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype. J Clin Immunol (2015) 0.75
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A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures. J Am Acad Dermatol (2004) 0.75