Published in Blood on February 01, 2002
Guidelines for preventing infectious complications among hematopoietic cell transplantation recipients: a global perspective. Biol Blood Marrow Transplant (2009) 5.10
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA (2014) 2.89
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol (2012) 2.47
Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood (2009) 2.26
Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med (2014) 1.81
Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res (2011) 1.78
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
The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol (2012) 1.46
Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID). J Allergy Clin Immunol Pract (2015) 1.42
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med (2014) 1.42
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
B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment? J Allergy Clin Immunol (2013) 1.33
Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol (2008) 1.25
Primary immunodeficiency disorders in Kuwait: first report from Kuwait National Primary Immunodeficiency Registry (2004--2006). J Clin Immunol (2007) 1.24
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol (2009) 1.23
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Blood (2007) 1.22
Post-transplantation B cell function in different molecular types of SCID. J Clin Immunol (2012) 1.18
B-cell function in severe combined immunodeficiency after stem cell or gene therapy: a review. J Allergy Clin Immunol (2010) 1.17
Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol (2010) 1.12
Effect of weight and maturation on busulfan clearance in infants and small children undergoing hematopoietic cell transplantation. Biol Blood Marrow Transplant (2013) 1.06
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab (2011) 1.06
Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol (2012) 1.05
Neonatal screening for severe combined immunodeficiency. Curr Opin Pediatr (2011) 1.02
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis (2010) 0.98
Adults with X-linked agammaglobulinemia: impact of disease on daily lives, quality of life, educational and socioeconomic status, knowledge of inheritance, and reproductive attitudes. Medicine (Baltimore) (2008) 0.94
Long-term outcome of non-ablative booster BMT in patients with SCID. Bone Marrow Transplant (2013) 0.91
History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol (2015) 0.89
The case for mandatory newborn screening for severe combined immunodeficiency (SCID). J Clin Immunol (2014) 0.88
Primary immune deficiencies - principles of care. Front Immunol (2014) 0.87
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol (2014) 0.86
Primary immunodeficiency disorders: survey of pediatricians in Kuwait. J Clin Immunol (2008) 0.86
Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation-what to do? J Allergy Clin Immunol (2015) 0.83
An update on the use of immunoglobulin for the treatment of immunodeficiency disorders. Immunotherapy (2014) 0.83
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. J Clin Immunol (2012) 0.83
Prevention of graft-vs.-host disease. Expert Opin Pharmacother (2012) 0.82
The case for newborn screening for severe combined immunodeficiency and related disorders. Ann N Y Acad Sci (2011) 0.82
Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies. Clin Mol Allergy (2011) 0.81
The effect of natural killer cell killer Ig-like receptor alloreactivity on the outcome of bone marrow stem cell transplantation for severe combined immunodeficiency (SCID). J Clin Immunol (2006) 0.80
T cell repertoire development in XSCID dogs following nonconditioned allogeneic bone marrow transplantation. Biol Blood Marrow Transplant (2007) 0.80
Hematopoietic cell transplantation for treatment of primary immune deficiencies. Cell Ther Transplant (2010) 0.80
Prevalence and morbidity of primary immunodeficiency diseases, United States 2001-2007. J Clin Immunol (2014) 0.80
Clonotypic analysis of T cell reconstitution after haematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency. Clin Exp Immunol (2007) 0.79
Screening for severe combined immunodeficiency in neonates. Clin Epidemiol (2013) 0.79
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases. Mol Genet Metab Rep (2014) 0.78
Stem cell transplantation for primary immunodeficiency diseases: the North American experience. Curr Opin Allergy Clin Immunol (2014) 0.78
Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency. Curr Pediatr Rep (2015) 0.78
Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficiencies. J Transl Med (2013) 0.78
Rapid thymic reconstitution following bone marrow transplantation in neonatal mice is VEGF-dependent. Biol Blood Marrow Transplant (2012) 0.78
Autologous haematopoietic stem cell transplantation in juvenile idiopathic arthritis. Arch Dis Child (2003) 0.77
T-cell Receptor and K-deleting Recombination Excision Circles in Newborn Screening of T- and B-cell Defects: Review of the Literature and Future Challenges. J Public Health Res (2013) 0.77
Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples. Mol Genet Metab (2012) 0.76
Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State. J Pediatr (2016) 0.76
The respiratory presentation of severe combined immunodeficiency in two Mennonite children at a tertiary centre highlighting the importance of recognizing this pediatric emergency. Can Respir J (2013) 0.75
Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. Pediatr Blood Cancer (2015) 0.75
Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies. Indian J Pediatr (2016) 0.75
Hematopoietic stem cell transplantation for primary immunodeficiencies. Hematol Oncol Clin North Am (2014) 0.75
Newborn bloodspot screening policy framework for Australia. Australas Med J (2015) 0.75
Recent advances in treatment of severe primary immunodeficiencies. F1000Res (2015) 0.75
STAT3 mutations in the hyper-IgE syndrome. N Engl J Med (2007) 8.99
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med (2009) 8.20
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
Effects of AIN457, a fully human antibody to interleukin-17A, on psoriasis, rheumatoid arthritis, and uveitis. Sci Transl Med (2010) 4.95
Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology. J Allergy Clin Immunol (2006) 3.86
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
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood (2010) 2.77
Actionable diagnosis of neuroleptospirosis by next-generation sequencing. N Engl J Med (2014) 2.71
Elevated serum levels of interferon-regulated chemokines are biomarkers for active human systemic lupus erythematosus. PLoS Med (2006) 2.53
Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol (2005) 2.45
Chemokine receptor mutant CX3CR1-M280 has impaired adhesive function and correlates with protection from cardiovascular disease in humans. J Clin Invest (2003) 2.27
Defective lymphocyte chemotaxis in beta-arrestin2- and GRK6-deficient mice. Proc Natl Acad Sci U S A (2002) 2.26
Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood (2009) 2.26
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A (2007) 2.25
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
Hyper-IgE syndromes. Immunol Rev (2005) 1.92
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood (2014) 1.88
Beta-arrestin-2 regulates the development of allergic asthma. J Clin Invest (2003) 1.85
Rapamycin is efficacious against primary effusion lymphoma (PEL) cell lines in vivo by inhibiting autocrine signaling. Blood (2006) 1.83
Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med (2014) 1.81
Cerebral palsy is characterized by protein mediators in cord serum. Ann Neurol (2004) 1.73
Prolonged CD4+ cell/virus load discordance during treatment with protease inhibitor-based highly active antiretroviral therapy: immune response and viral control. J Infect Dis (2003) 1.71
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
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
Randomized controlled trials of autologous hematopoietic stem cell transplantation for autoimmune diseases: the evolution from myeloablative to lymphoablative transplant regimens. Arthritis Rheum (2006) 1.62
Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol (2007) 1.61
CX3CR1 deficiency impairs dendritic cell accumulation in arterial intima and reduces atherosclerotic burden. Arterioscler Thromb Vasc Biol (2007) 1.59
Genomic-based therapy: targeting interleukin-1 for autoinflammatory diseases. Arthritis Rheum (2004) 1.58
Cadherin-11 provides specific cellular adhesion between fibroblast-like synoviocytes. J Exp Med (2004) 1.48
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
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
Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol (2004) 1.39
T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. J Immunol (2003) 1.39
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
Protein microarray analysis of disease activity in pediatric inflammatory bowel disease demonstrates elevated serum PLGF, IL-7, TGF-beta1, and IL-12p40 levels in Crohn's disease and ulcerative colitis patients in remission versus active disease. Am J Gastroenterol (2005) 1.34
B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment? J Allergy Clin Immunol (2013) 1.33
Human ribonuclease A superfamily members, eosinophil-derived neurotoxin and pancreatic ribonuclease, induce dendritic cell maturation and activation. J Immunol (2004) 1.33
Beta-arrestin 2-dependent angiotensin II type 1A receptor-mediated pathway of chemotaxis. Mol Pharmacol (2005) 1.33
Transplantation immunology: solid organ and bone marrow. J Allergy Clin Immunol (2010) 1.30
CX3CR1 tyrosine sulfation enhances fractalkine-induced cell adhesion. J Biol Chem (2002) 1.30
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
Comparison of the efficacy of IGIV-C, 10% (caprylate/chromatography) and IGIV-SD, 10% as replacement therapy in primary immune deficiency. A randomized double-blind trial. Int Immunopharmacol (2003) 1.27
Acute LPS inhalation in healthy volunteers induces dendritic cell maturation in vivo. J Allergy Clin Immunol (2005) 1.27
Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood (2003) 1.26
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
An update on the hyper-IgE syndromes. Arthritis Res Ther (2012) 1.23
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol (2009) 1.23
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Blood (2007) 1.22
Toll-like receptor 4 (TLR4)-deficient murine macrophage cell line as an in vitro assay system to show TLR4-independent signaling of Bacteroides fragilis lipopolysaccharide. Infect Immun (2002) 1.21
The hyper IgE syndrome and mutations in TYK2. Immunity (2007) 1.21
T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. Blood (2006) 1.15
Th17 cells, not IL-17+ γδ T cells, drive arthritic bone destruction in mice and humans. J Immunol (2011) 1.14
Multiplexed protein profiling on antibody-based microarrays by rolling circle amplification. Curr Opin Biotechnol (2003) 1.14
Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol (2010) 1.12
A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J Immunol (2004) 1.11
Increased acute inflammation, leukotriene B4-induced chemotaxis, and signaling in mice deficient for G protein-coupled receptor kinase 6. J Immunol (2003) 1.10
Jak3 and the pathogenesis of severe combined immunodeficiency. Mol Immunol (2004) 1.09
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med (2008) 1.08
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
Chemokines and leukocyte trafficking in rheumatoid arthritis. Pathophysiology (2005) 1.04
CX3CR1 deficiency confers protection from intimal hyperplasia after arterial injury. Arterioscler Thromb Vasc Biol (2006) 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
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med (2015) 1.02
Ozone enhancement of lower airway allergic inflammation is prevented by gamma-tocopherol. Free Radic Biol Med (2007) 1.00
CD45-deficient severe combined immunodeficiency caused by uniparental disomy. Proc Natl Acad Sci U S A (2012) 0.99
Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6. Mol Cell Probes (2005) 0.99
The immune system in aging: roles of cytokines, T cells and NK cells. Front Biosci (2005) 0.98
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet (2006) 0.97
Cowpox virus encodes a fifth member of the tumor necrosis factor receptor family: a soluble, secreted CD30 homologue. Proc Natl Acad Sci U S A (2002) 0.96
Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency. J Allergy Clin Immunol (2007) 0.96
Recycling of the membrane-anchored chemokine, CX3CL1. J Biol Chem (2005) 0.96
Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol (2006) 0.96
Granulocyte chemotaxis and disease expression are differentially regulated by GRK subtype in an acute inflammatory arthritis model (K/BxN). Clin Immunol (2008) 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
AIRE recruits multiple transcriptional components to specific genomic regions through tethering to nuclear matrix. Mol Immunol (2005) 0.91
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia). Clin Immunol (2005) 0.91
Enhanced Th17-cell responses render CCR2-deficient mice more susceptible for autoimmune arthritis. PLoS One (2011) 0.91
Defective antitumor responses in CX3CR1-deficient mice. Int J Cancer (2007) 0.90
The hyper-IgE syndrome is not caused by a microdeletion syndrome. Immunogenetics (2007) 0.89