Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features.

PubWeight™: 1.32‹?› | Rank: Top 10%

🔗 View Article (PMID 15661021)

Published in Immunol Rev on February 01, 2005

Authors

Vassilios Lougaris1, Raffaele Badolato, Simona Ferrari, Alessandro Plebani

Author Affiliations

1: Department of Pediatrics, Istituto di Medicina Molecolare A. Nocivelli, University of Brescia, Brescia, Italy.

Articles citing this

Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet (2008) 7.07

Pathophysiology of T follicular helper cells in humans and mice. Nat Immunol (2015) 1.80

Update on the hyper immunoglobulin M syndromes. Br J Haematol (2010) 1.43

Age effects on B cells and humoral immunity in humans. Ageing Res Rev (2010) 1.42

Cell surface signaling molecules in the control of immune responses: a tide model. Immunity (2011) 1.32

Autoimmunity in hyper-IgM syndrome. J Clin Immunol (2008) 1.06

Immunity to microbes: lessons from primary immunodeficiencies. Infect Immun (2007) 0.93

Study of association of CD40-CD154 gene polymorphisms with disease susceptibility and cardiovascular risk in Spanish rheumatoid arthritis patients. PLoS One (2012) 0.91

Immune activation and a 9-year ongoing complete remission following CD40 antibody therapy and metastasectomy in a patient with metastatic melanoma. Cancer Immunol Res (2014) 0.91

Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet (2006) 0.91

Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients. J Clin Immunol (2013) 0.90

Understanding systemic lupus erythematosus physiopathology in the light of primary immunodeficiencies. J Clin Immunol (2008) 0.90

Low levels of NF-κB/p65 mark anergic CD4+ T cells and correlate with disease severity in sarcoidosis. Clin Vaccine Immunol (2010) 0.88

T cell activation inhibitors reduce CD8+ T cell and pro-inflammatory macrophage accumulation in adipose tissue of obese mice. PLoS One (2013) 0.88

A novel polymorphism of the human CD40 receptor with enhanced function. Blood (2008) 0.86

Quorum sensing contributes to activated IgM-secreting B cell homeostasis. J Immunol (2012) 0.85

Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. Blood (2011) 0.84

Longitudinal analysis of antibody response to immunization in paediatric survivors after allogeneic haematopoietic stem cell transplantation. Br J Haematol (2011) 0.83

Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis. Arthritis Res Ther (2012) 0.83

CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome. Clin Immunol (2012) 0.81

Late stages of hematopoiesis and B cell lymphopoiesis are regulated by α-synuclein, a key player in Parkinson's disease. Immunobiology (2014) 0.81

The loss of Gnai2 and Gnai3 in B cells eliminates B lymphocyte compartments and leads to a hyper-IgM like syndrome. PLoS One (2013) 0.81

Deleted in Breast Cancer 1 Suppresses B Cell Activation through RelB and Is Regulated by IKKα Phosphorylation. J Immunol (2015) 0.77

Regulation of the IgE response. F1000 Biol Rep (2010) 0.77

Persistent Polyclonal B Cell Lymphocytosis B Cells Can Be Activated through CD40-CD154 Interaction. Adv Hematol (2014) 0.77

AID in aging and autoimmune diseases. Autoimmunity (2013) 0.76

Primary immunodeficiencies associated with eosinophilia. Allergy Asthma Clin Immunol (2016) 0.75

Unbalanced Immune System: Immunodeficiencies and Autoimmunity. Front Pediatr (2016) 0.75

Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol (2016) 0.75

Articles by these authors

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell (2006) 5.33

A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med (2009) 5.20

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. Blood (2004) 5.10

Intestinal bacteria trigger T cell-independent immunoglobulin A(2) class switching by inducing epithelial-cell secretion of the cytokine APRIL. Immunity (2007) 4.87

The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood (2007) 4.14

B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66

Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen. J Exp Med (2003) 3.64

ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. J Immunol (2006) 2.99

Re-immunisation schedule in leukaemic children after intensive chemotherapy: a possible strategy. Eur J Haematol (2005) 2.86

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol (2010) 2.55

Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol (2007) 2.43

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol (2007) 2.38

Virologic, immunologic, and clinical benefits from early combined antiretroviral therapy in infants with perinatal HIV-1 infection. AIDS (2006) 2.26

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica (2007) 2.23

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med (2006) 2.18

Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors. J Immunol (2011) 2.08

C4b-binding protein (C4BP) activates B cells through the CD40 receptor. Immunity (2003) 2.04

Immunoglobulin D enhances immune surveillance by activating antimicrobial, proinflammatory and B cell-stimulating programs in basophils. Nat Immunol (2009) 1.97

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet (2012) 1.94

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J Pediatr (2003) 1.84

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood (2008) 1.83

Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. J Clin Immunol (2011) 1.78

CpG drives human transitional B cells to terminal differentiation and production of natural antibodies. J Immunol (2008) 1.77

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol (2012) 1.70

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms. Blood (2007) 1.66

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science (2013) 1.57

Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood (2010) 1.57

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol (2004) 1.51

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46

The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency. J Allergy Clin Immunol (2005) 1.43

Sensorineural hearing loss in primary antibody deficiency disorders. J Pediatr (2008) 1.42

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

Profound T-cell defects in Dubowitz syndrome. Pediatr Allergy Immunol (2014) 1.39

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol (2010) 1.36

AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest (2005) 1.35

Viral double-stranded RNA triggers Ig class switching by activating upper respiratory mucosa B cells through an innate TLR3 pathway involving BAFF. J Immunol (2008) 1.35

Toll receptor-mediated regulation of NADPH oxidase in human dendritic cells. J Immunol (2004) 1.29

Defect of regulatory T cells in patients with Omenn syndrome. J Allergy Clin Immunol (2010) 1.21

The hyper IgE syndrome and mutations in TYK2. Immunity (2007) 1.21

Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. Circulation (2009) 1.19

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5. Mol Cell Biol (2007) 1.19

Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood (2006) 1.19

Inherited human gp91phox deficiency is associated with impaired isoprostane formation and platelet dysfunction. Arterioscler Thromb Vasc Biol (2010) 1.17

Five-year follow-up of children with perinatal HIV-1 infection receiving early highly active antiretroviral therapy. BMC Infect Dis (2009) 1.14

The significance of duodenal mucosal atrophy in patients with common variable immunodeficiency: a clinical and histopathologic study. Am J Clin Pathol (2012) 1.14

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. Arthritis Rheum (2006) 1.13

Differentiating PFAPA syndrome from monogenic periodic fevers. Pediatrics (2009) 1.12

Type I interferon-dependent gene MxA in perinatal HIV-infected patients under antiretroviral therapy as marker for therapy failure and blood plasmacytoid dendritic cells depletion. J Transl Med (2008) 1.11

Immunodeficiencies with autoimmune consequences. Adv Immunol (2006) 1.11

ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol (2004) 1.11

Role of dendritic cell-derived CXCL13 in the pathogenesis of Bartonella henselae B-rich granuloma. Blood (2005) 1.09

Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. J Clin Immunol (2005) 1.09

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest (2003) 1.06

Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis. J Gen Virol (2003) 1.05

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. Mol Immunol (2009) 1.03

Nosocomial Rotavirus Gastroenteritis in pediatric patients: a multi-center prospective cohort study. BMC Infect Dis (2010) 1.03

Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency. J Immunol (2003) 1.03

A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1. Clin Immunol (2007) 1.03

EGFR and KRAS mutational profiling in fresh non-small cell lung cancer (NSCLC) cells. J Cancer Res Clin Oncol (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

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. Eur J Hum Genet (2006) 1.02

Combined decrease of defined B and T cell subsets in a group of common variable immunodeficiency patients. Clin Immunol (2006) 1.00

Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. FASEB J (2009) 1.00

Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis. Ann Rheum Dis (2010) 0.99

Thymic and bone marrow output in patients with common variable immunodeficiency. J Clin Immunol (2011) 0.99

Reduced atherosclerotic burden in subjects with genetically determined low oxidative stress. Arterioscler Thromb Vasc Biol (2013) 0.98

Poor health-related quality of life and abnormal psychosocial adjustment in Italian children with perinatal HIV infection receiving highly active antiretroviral treatment. AIDS Care (2010) 0.98

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood (2012) 0.98

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation. Blood (2011) 0.98

Long-lasting memory-resting and memory-effector CD4+ T cells in human X-linked agammaglobulinemia. Blood (2002) 0.97

Prospective study on CVID patients with adverse reactions to intravenous or subcutaneous IgG administration. J Clin Immunol (2008) 0.97

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin Immunol (2011) 0.96

Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med (2007) 0.95

Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene. Clin Chem (2007) 0.93

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children. Virol J (2012) 0.93

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood (2011) 0.93

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. Blood (2010) 0.92

Use of linezolid in infants and children: a retrospective multicentre study of the Italian Society for Paediatric Infectious Diseases. J Antimicrob Chemother (2011) 0.92

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Mov Disord (2012) 0.91

Genetic causes of bronchiectasis: primary immune deficiencies and the lung. Respiration (2007) 0.91

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial. Orphanet J Rare Dis (2014) 0.90

Defective migration of monocyte-derived dendritic cells in LAD-1 immunodeficiency. J Leukoc Biol (2002) 0.90

Screening of functional and positional candidate genes in families with common variable immunodeficiency. BMC Immunol (2008) 0.89

Body experiences, emotional competence, and psychosocial functioning in juvenile idiopathic arthritis. Rheumatol Int (2013) 0.89

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q. Hum Genet (2005) 0.88

Identification of different Ikaros cDNA transcripts in Philadelphia-positive adult acute lymphoblastic leukemia by a high-throughput capillary electrophoresis sizing method. Haematologica (2008) 0.87