Published in Mol Immunol on December 24, 2010
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Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome. Blood (2014) 0.78
The spread of the J Project. J Clin Immunol (2013) 0.77
Genetic sequence analysis of inherited bleeding diseases. Blood (2013) 0.77
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? J Clin Immunol (2011) 0.77
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand. Allergy Asthma Clin Immunol (2016) 0.75
Defective thymic output in WAS patients is associated with abnormal actin organization. Sci Rep (2017) 0.75
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature (2007) 7.07
Pyogenic bacterial infections in humans with MyD88 deficiency. Science (2008) 4.92
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
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
Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med (2010) 3.09
Chronic granulomatous disease: the European experience. PLoS One (2009) 3.04
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med (2011) 2.96
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med (2007) 2.85
Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies. Lancet (2004) 2.82
An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med (2006) 2.77
Children and adults with primary antibody deficiencies gain quality of life by subcutaneous IgG self-infusions at home. J Allergy Clin Immunol (2004) 2.65
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med (2003) 2.19
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med (2006) 2.18
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity (2005) 2.16
Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathways. Blood (2011) 2.15
Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med (2007) 2.05
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Rapid subcutaneous IgG replacement therapy is effective and safe in children and adults with primary immunodeficiencies--a prospective, multi-national study. J Clin Immunol (2006) 1.97
Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells. Proc Natl Acad Sci U S A (2009) 1.91
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest (2010) 1.79
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Global molecular surveillance reveals novel Fusarium head blight species and trichothecene toxin diversity. Fungal Genet Biol (2007) 1.76
Rationale for pertussis booster vaccination throughout life in Europe. Lancet Infect Dis (2011) 1.74
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol (2012) 1.70
Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis (2010) 1.70
IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients. Blood (2012) 1.65
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment. Clin Immunol (2002) 1.64
Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood (2005) 1.63
Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression. J Immunol (2005) 1.61
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis (2012) 1.59
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood (2010) 1.57
Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations. Blood (2011) 1.53
Safety and efficacy of an oral histone deacetylase inhibitor in systemic-onset juvenile idiopathic arthritis. Arthritis Rheum (2011) 1.52
Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. J Pediatr (2002) 1.52
Anti-TNF treatment blocks the induction of T cell-dependent humoral responses. Ann Rheum Dis (2012) 1.51
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol (2009) 1.49
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol (2012) 1.43
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
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol (2011) 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
BCG-osis and tuberculosis in a child with chronic granulomatous disease. J Allergy Clin Immunol (2007) 1.34
B cell subsets in healthy children: reference values for evaluation of B cell maturation process in peripheral blood. Cytometry B Clin Cytom (2010) 1.33
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol (2015) 1.32
Aspergillus brasiliensis sp. nov., a biseriate black Aspergillus species with world-wide distribution. Int J Syst Evol Microbiol (2007) 1.30
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. J Med Genet (2006) 1.30
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev (2015) 1.29
Efficacy and safety of hizentra®, a new 20% immunoglobulin preparation for subcutaneous administration, in pediatric patients with primary immunodeficiency. J Clin Immunol (2011) 1.28
Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect. Blood (2004) 1.27
Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol (2010) 1.24
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet (2011) 1.24
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. Blood (2002) 1.23
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant (2011) 1.23
Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients. Arthritis Rheumatol (2014) 1.22
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet (2013) 1.22
IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One (2011) 1.20
B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency. Blood (2011) 1.19
Immunity to infection in IL-17-deficient mice and humans. Eur J Immunol (2012) 1.18
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Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. Clin Endocrinol (Oxf) (2009) 1.14
Innate immune mechanisms for recognition and uptake of Candida species. Trends Immunol (2010) 1.14
Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Am J Hum Genet (2008) 1.12
Immunoglobulin gene rearrangements and the pathogenesis of multiple myeloma. Blood (2007) 1.11
Cryptosporidium infection in patients with primary immunodeficiencies. J Pediatr Gastroenterol Nutr (2007) 1.08
Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol (2012) 1.07
Diagnosing mycobacterial lymphadenitis in children using fine needle aspiration biopsy: cytomorphology, ZN staining and autofluorescence -- making more of less. Diagn Cytopathol (2008) 1.07
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest (2003) 1.06
Value of biochemical markers for outcome in term infants with asphyxia. Pediatr Neurol (2004) 1.05
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol (2008) 1.05
Mycotoxin production and evolutionary relationships among species of Aspergillus section Clavati. Antonie Van Leeuwenhoek (2003) 1.05
Evolutionary relationships among Aspergillus terreus isolates and their relatives. Antonie Van Leeuwenhoek (2005) 1.04
Herpes in STAT1 gain-of-function mutation [corrected]. Lancet (2012) 1.04
Culture-negative infective endocarditis caused by Aerococcus urinae. J Heart Valve Dis (2007) 1.04
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. J Exp Med (2010) 1.03
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet (2013) 1.02
Functional defects of dendritic cells in patients with CD40 deficiency. Blood (2003) 1.02
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med (2012) 1.02
Disseminated bacillus Calmette-Guérin infection and immunodeficiency. Emerg Infect Dis (2007) 1.01
Genetic variability and reproductive mode of Aspergillus fumigatus. Infect Genet Evol (2003) 1.01
International consensus for provisions of quality-driven care in childhood-onset systemic lupus erythematosus. Arthritis Care Res (Hoboken) (2013) 1.00