Published in Immunol Rev on February 01, 2005
A coming-of-age story: activation-induced cytidine deaminase turns 10. Nat Immunol (2009) 1.68
Expression of activation-induced cytidine deaminase enhances the clearance of pneumococcal pneumonia: evidence of a subpopulation of protective anti-pneumococcal B1a cells. Immunology (2016) 1.41
Activation-induced cytidine deaminase mediates central tolerance in B cells. Proc Natl Acad Sci U S A (2011) 1.30
Clinical consequences of defects in B-cell development. J Allergy Clin Immunol (2010) 1.19
Haploinsufficiency of activation-induced deaminase for antibody diversification and chromosome translocations both in vitro and in vivo. PLoS One (2008) 1.15
Hyper IgM syndrome presenting as chronic suppurative lung disease. Ital J Pediatr (2012) 1.07
Autoimmunity in hyper-IgM syndrome. J Clin Immunol (2008) 1.06
Understanding systemic lupus erythematosus physiopathology in the light of primary immunodeficiencies. J Clin Immunol (2008) 0.90
Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases. PLoS One (2012) 0.86
Quorum sensing contributes to activated IgM-secreting B cell homeostasis. J Immunol (2012) 0.85
LINE-1 retroelements complexed and inhibited by activation induced cytidine deaminase. PLoS One (2012) 0.84
Late stages of hematopoiesis and B cell lymphopoiesis are regulated by α-synuclein, a key player in Parkinson's disease. Immunobiology (2014) 0.81
ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol (2014) 0.77
Non-canonical uracil processing in DNA gives rise to double-strand breaks and deletions: relevance to class switch recombination. Nucleic Acids Res (2016) 0.77
Phenotypic and Functional Comparison of Class Switch Recombination Deficiencies with a Subgroup of Common Variable Immunodeficiencies. J Clin Immunol (2016) 0.75
Study of patients with Hyper-IgM type IV phenotype who recovered spontaneously during late childhood and review of the literature. Eur J Pediatr (2011) 0.75
Selective IgM Deficiency: Clinical and Laboratory Features of 17 Patients and a Review of the Literature. J Clin Immunol (2017) 0.75
[Clinical and immunological profile of 15 Moroccan patients with Hyper IgM syndrome]. Pan Afr Med J (2017) 0.75
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest (2008) 9.42
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science (2009) 8.80
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2003) 8.59
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature (2010) 6.95
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med (2002) 6.25
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell (2006) 5.33
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell (2003) 4.94
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet (2002) 4.84
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol (2003) 3.81
Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol (2009) 3.70
AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol (2003) 3.69
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2010) 3.54
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet (2003) 3.44
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature (2006) 3.30
Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy. J Clin Invest (2007) 3.28
Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. Blood (2010) 3.23
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
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
Chronic granulomatous disease: the European experience. PLoS One (2009) 3.04
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med (2009) 2.72
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med (2005) 2.66
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica (2005) 2.66
DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer. Nucleic Acids Res (2008) 2.64
Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. Blood (2007) 2.36
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
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat Immunol (2007) 2.28
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med (2004) 2.25
Immune reconstitution without graft-versus-host disease after haemopoietic stem-cell transplantation: a phase 1/2 study. Lancet (2002) 2.21
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med (2003) 2.19
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood (2003) 2.11
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol (2009) 2.09
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest (2009) 2.08
Dynamics of gene-modified progenitor cells analyzed by tracking retroviral integration sites in a human SCID-X1 gene therapy trial. Blood (2010) 2.05
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood (2009) 2.03
Efficacy and safety of rituximab in B-cell post-transplantation lymphoproliferative disorders: results of a prospective multicenter phase 2 study. Blood (2005) 1.99
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest (2003) 1.93
Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol (2010) 1.93
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics (2003) 1.91
Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. Blood (2013) 1.91
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood (2012) 1.80
Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1. J Biol Chem (2006) 1.79
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest (2005) 1.77
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. Blood (2013) 1.74
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood (2013) 1.68
Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair. Proc Natl Acad Sci U S A (2010) 1.62
Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Pediatrics (2007) 1.60
Gene therapy: X-SCID transgene leukaemogenicity. Nature (2006) 1.57
Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. Blood (2012) 1.56
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood (2010) 1.55
Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med (2006) 1.54
Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis. Immunol Rev (2005) 1.52
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood (2010) 1.51
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
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest (2014) 1.50
X-linked thrombocytopenia in a girl. Br J Haematol (2002) 1.48
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol (2006) 1.46
Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn. J Exp Med (2005) 1.46
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol (2006) 1.45
Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice. EMBO Mol Med (2009) 1.44
Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol (2011) 1.43
The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. J Immunol (2003) 1.43
A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest (2014) 1.42
Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Invest (2007) 1.42
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med (2014) 1.42
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Immunol Rev (2005) 1.42
Propionibacterium acnes chest infections in patients with chronic granulomatous disease: case reports. Clin Infect Dis (2002) 1.41
Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells. Nucleic Acids Res (2004) 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
Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients. Pediatrics (2006) 1.39
Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol (2010) 1.39
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J Clin Invest (2003) 1.36
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood (2011) 1.36
AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest (2005) 1.35
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol (2002) 1.34
New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children. Haematologica (2011) 1.34
Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest (2004) 1.33
Inherited defects in lymphocyte cytotoxic activity. Immunol Rev (2010) 1.33
Clonal evidence for the transduction of CD34+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial. Blood (2004) 1.32
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) (2012) 1.31