Published in Blood on January 27, 2011
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
Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med (2014) 1.81
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
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med (2014) 1.42
Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur J Pediatr (2011) 1.33
Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011). J Clin Immunol (2011) 1.25
The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008-2012. Clin Exp Immunol (2014) 1.08
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab (2011) 1.06
Neonatal screening for severe combined immunodeficiency. Curr Opin Pediatr (2011) 1.02
Primary Immune Deficiency Treatment Consortium (PIDTC) report. J Allergy Clin Immunol (2013) 1.01
Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome. J Clin Immunol (2014) 0.96
The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. PLoS One (2012) 0.92
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
An update on the use of immunoglobulin for the treatment of immunodeficiency disorders. Immunotherapy (2014) 0.83
The case for newborn screening for severe combined immunodeficiency and related disorders. Ann N Y Acad Sci (2011) 0.82
A call to include severe combined immunodeficiency in newborn screening program. Rambam Maimonides Med J (2014) 0.81
Screening of neonatal UK dried blood spots using a duplex TREC screening assay. J Clin Immunol (2014) 0.80
Clinical predictors of primary immunodeficiency diseases in children. Allergy Asthma Immunol Res (2012) 0.80
Screening for severe combined immunodeficiency in neonates. Clin Epidemiol (2013) 0.79
Severe combined immunodeficiency (SCID) in Canadian children: a national surveillance study. J Clin Immunol (2013) 0.79
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
Stem cell transplantation for primary immunodeficiency diseases: the North American experience. Curr Opin Allergy Clin Immunol (2014) 0.78
Lentivirus Mediated Correction of Artemis-deficient Severe Combined Immunodeficiency. Hum Gene Ther (2016) 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
Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening. Eur J Pediatr (2015) 0.76
Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State. J Pediatr (2016) 0.76
FOXN1 deficient nude severe combined immunodeficiency. Orphanet J Rare Dis (2017) 0.75
Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. Pediatr Blood Cancer (2015) 0.75
Hematopoietic stem cell transplantation for primary immunodeficiencies. Hematol Oncol Clin North Am (2014) 0.75
Recent advances in treatment of severe primary immunodeficiencies. F1000Res (2015) 0.75
Advances in neonatal screening for primary immune deficiencies. Exp Ther Med (2016) 0.75
Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites. BMC Med Genet (2016) 0.75
Chemotherapy-free conditioning: one step closer. Blood (2014) 0.75
Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions. Orphanet J Rare Dis (2016) 0.75
Primary immunodeficiency for the primary care provider. Paediatr Child Health (2016) 0.75
Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies. Clin Vaccine Immunol (2016) 0.75
Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest (2008) 7.05
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med (2002) 6.25
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet (2003) 3.44
IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med (2011) 3.29
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 3.16
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med (2011) 2.96
Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo. J Clin Invest (2007) 2.80
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol (2003) 2.56
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol (2010) 2.35
Outcome of children requiring admission to an intensive care unit after bone marrow transplantation. Crit Care Med (2003) 2.28
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
Comprehensive genomic access to vector integration in clinical gene therapy. Nat Med (2009) 2.19
Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet (2010) 2.17
Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning. Mol Ther (2006) 2.08
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest (2009) 2.08
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet (2007) 2.04
Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study. Lancet (2009) 1.96
Adoptive immunotherapy with allodepleted donor T-cells improves immune reconstitution after haploidentical stem cell transplantation. Blood (2006) 1.93
Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. Blood (2013) 1.91
Impact of thymoglobulin prior to pediatric unrelated umbilical cord blood transplantation on immune reconstitution and clinical outcome. Blood (2013) 1.90
Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working Party. Blood (2011) 1.89
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells. J Exp Med (2005) 1.84
2013 IDSA clinical practice guideline for vaccination of the immunocompromised host. Clin Infect Dis (2014) 1.81
Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency. Sci Transl Med (2011) 1.81
Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. Sci Transl Med (2011) 1.81
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood (2012) 1.80
Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets. Blood (2010) 1.75
2013 IDSA clinical practice guideline for vaccination of the immunocompromised host. Clin Infect Dis (2013) 1.69
Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies. J Allergy Clin Immunol (2010) 1.65
Long-term follow-up of relapsed childhood acute lymphoblastic leukaemia. Br J Haematol (2003) 1.62
Gene therapy: X-SCID transgene leukaemogenicity. Nature (2006) 1.57
Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. Br J Haematol (2006) 1.49
An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity. DNA Repair (Amst) (2010) 1.46
Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation. J Allergy Clin Immunol (2013) 1.46
Emergency treatment of anaphylactic reactions--guidelines for healthcare providers. Resuscitation (2008) 1.45
Self-inactivating gammaretroviral vectors for gene therapy of X-linked severe combined immunodeficiency. Mol Ther (2008) 1.44
SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease. Blood (2012) 1.44
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med (2014) 1.42
Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. Blood (2005) 1.41
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood (2010) 1.40
Chronic granulomatous disease: lessons from a rare disorder. Biol Blood Marrow Transplant (2011) 1.38
BCSH/BSBMT guideline: diagnosis and management of veno-occlusive disease (sinusoidal obstruction syndrome) following haematopoietic stem cell transplantation. Br J Haematol (2013) 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
Hematopoietic SCT in Europe: data and trends in 2011. Bone Marrow Transplant (2013) 1.34
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol (2015) 1.32
Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood (2008) 1.29
Excellent outcome of matched unrelated donor transplantation in paediatric aplastic anaemia following failure with immunosuppressive therapy: a United Kingdom multicentre retrospective experience. Br J Haematol (2012) 1.29
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. Blood (2011) 1.28
Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP. PLoS Biol (2011) 1.27
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab (2008) 1.26
Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience. Blood (2011) 1.24
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet (2011) 1.24
Mesenchymal stem cells exert differential effects on alloantigen and virus-specific T-cell responses. Blood (2008) 1.23
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol (2009) 1.23
SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease. Blood (2004) 1.21
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH). J Clin Virol (2004) 1.18
Sleeping beauty transposition from nonintegrating lentivirus. Mol Ther (2009) 1.18
Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen. Blood (2004) 1.16
Repeated courses of rituximab for autoimmune cytopenias may precipitate profound hypogammaglobulinaemia requiring replacement intravenous immunoglobulin. Br J Haematol (2009) 1.15
Clinical features that identify children with primary immunodeficiency diseases. Pediatrics (2011) 1.13
Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant (2009) 1.12
Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth. Br J Haematol (2009) 1.11
Increased incidence of EBV-related disease following paediatric stem cell transplantation with reduced-intensity conditioning. Br J Haematol (2005) 1.11
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood (2012) 1.11
Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey. J Pediatr (2004) 1.09
Improved outcome for children with disseminated adenoviral infection following allogeneic stem cell transplantation. Br J Haematol (2005) 1.08
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? Blood (2012) 1.07
Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency. J Allergy Clin Immunol (2007) 1.06
PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest (2013) 1.06