Published in Mol Cell Probes on November 04, 2005
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood (2010) 2.77
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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
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
Administration of rhIL-7 in humans increases in vivo TCR repertoire diversity by preferential expansion of naive T cell subsets. J Exp Med (2008) 3.48
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
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol (2011) 3.05
Lymphopenia and interleukin-2 therapy alter homeostasis of CD4+CD25+ regulatory T cells. Nat Med (2005) 3.01
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood (2009) 3.00
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med (2012) 2.87
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood (2013) 2.82
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood (2010) 2.77
Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol (2005) 2.45
Predictors of severe right ventricular failure after implantable left ventricular assist device insertion: analysis of 245 patients. Circulation (2002) 2.33
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A (2007) 2.25
A pilot study of CTLA-4 blockade after cancer vaccine failure in patients with advanced malignancy. Clin Cancer Res (2007) 2.24
A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. Immunity (2011) 2.15
Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood (2002) 2.11
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood (2010) 2.10
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr (2004) 2.01
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
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
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. Blood (2013) 1.93
Hyper-IgE syndromes. Immunol Rev (2005) 1.92
Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica (2011) 1.89
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Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med (2014) 1.81
Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood (2011) 1.76
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol (2013) 1.66
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor. Blood (2014) 1.66
The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome. Blood (2011) 1.65
Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Clin Immunol (2011) 1.64
Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol (2007) 1.61
Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia. Blood (2010) 1.56
Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol (2010) 1.54
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol (2013) 1.52
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol (2013) 1.49
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity. J Clin Invest (2012) 1.47
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol (2008) 1.46
Phase I study of recombinant human interleukin-7 administration in subjects with refractory malignancy. Clin Cancer Res (2010) 1.44
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol (2004) 1.43
The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol (2013) 1.40
Safety (toxicity), pharmacokinetics, immunogenicity, and impact on elements of the normal immune system of recombinant human IL-15 in rhesus macaques. Blood (2011) 1.39
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood (2010) 1.38
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol (2010) 1.36
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. J Exp Med (2010) 1.35
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci U S A (2011) 1.33
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
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol (2013) 1.27
Alterations in peripheral blood memory B cells in patients with active rheumatoid arthritis are dependent on the action of tumour necrosis factor. Arthritis Res Ther (2009) 1.27
Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol (2005) 1.25
Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol (2008) 1.25
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol (2009) 1.23
An update on the hyper-IgE syndromes. Arthritis Res Ther (2012) 1.23
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Blood (2007) 1.22
The hyper IgE syndrome and mutations in TYK2. Immunity (2007) 1.21
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. J Exp Med (2012) 1.19
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. Haematologica (2013) 1.17
A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome. Clin Immunol (2002) 1.17
Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol (2003) 1.15
Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol (2010) 1.12
Laboratory evaluation of primary immunodeficiencies. J Allergy Clin Immunol (2009) 1.10
Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis. Clin Infect Dis (2011) 1.09
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). Blood (2007) 1.09
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. Blood (2013) 1.08
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med (2008) 1.08
MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature. Clin Infect Dis (2013) 1.08
Preclinical and phase I clinical trial of blockade of IL-15 using Mikbeta1 monoclonal antibody in T cell large granular lymphocyte leukemia. Proc Natl Acad Sci U S A (2005) 1.06
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab (2011) 1.06
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med (2008) 1.06
Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. J Allergy Clin Immunol (2010) 1.05
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. J Immunol (2011) 1.04
Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome. Pediatrics (2006) 1.04
Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics (2007) 1.02
Critical role for BIM in T cell receptor restimulation-induced death. Biol Direct (2008) 1.02
Pulmonary nontuberculous mycobacterial infections in hyper-IgE syndrome. J Allergy Clin Immunol (2009) 1.01
Integrating pharmacogenetic information and clinical decision support into the electronic health record. J Am Med Inform Assoc (2013) 0.98
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet (2006) 0.97
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Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol (2006) 0.96
Natural killer cell counts are not different between patients with post-Lyme disease syndrome and controls. Clin Vaccine Immunol (2009) 0.95
Coronary artery abnormalities in Hyper-IgE syndrome. J Clin Immunol (2011) 0.95