Related references
Note: Only part of the references are listed.Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans
Fabio Candotti et al.
BLOOD (2012)
Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST
Hasan Al-Dhekri et al.
CLINICAL IMMUNOLOGY (2012)
CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome
Xiying Fan et al.
CLINICAL IMMUNOLOGY (2012)
Gene Therapy for Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency
Claudia A. Montiel-Equihua et al.
CURRENT GENE THERAPY (2012)
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation
Barbara Piatosa et al.
CYTOMETRY PART A (2012)
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome
Janet Chou et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)
Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand
Ashish Jain et al.
BLOOD (2011)
Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans
Greta Meyers et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Update on the hyper immunoglobulin M syndromes
E. Graham Davies et al.
BRITISH JOURNAL OF HAEMATOLOGY (2010)
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome
J. G. Noordzij et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2009)
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: Report of four cases and review of the literature
Melinda Erdos et al.
CLINICAL IMMUNOLOGY (2008)
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency
Eduardo Lopez Granados et al.
HUMAN MUTATION (2008)
Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-κB essential modulator deficiency
Sung-Yun Pai et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2008)
Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients
Steven J. Howe et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
Salima Hacein-Bey-Abina et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
Sophie Peron et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2008)
Heterozygous N-terminal deletion of IκBα results in functional nuclear factor κB haploinsufficiency, ectodermal dysplasia, and immune deficiency
Douglas R. McDonald et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2007)
First report of successful stem cell transplantation in a child with CD40 deficiency
E. Mazzolari et al.
BONE MARROW TRANSPLANTATION (2007)
CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance
Maxime Herve et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2007)
DNA-uracil and human pathology.
Mirta M. L. Sousa et al.
MOLECULAR ASPECTS OF MEDICINE (2007)
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L
Erna Van Hoeyveld et al.
IMMUNOLOGY (2007)
Inummodeficiencies due to defects of class-switch recombination
Luigi D. Notarangelo et al.
IMMUNOLOGIC RESEARCH (2007)
Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning
H. Bobby Gaspar et al.
MOLECULAR THERAPY (2006)
Critical function of the CD40 pathway in parvovirus B19 infection revealed by a hypomorphic CD40 ligand mutation
F Blaeser et al.
CLINICAL IMMUNOLOGY (2005)
Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2
K Imai et al.
CLINICAL IMMUNOLOGY (2005)
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome
WI Lee et al.
BLOOD (2005)
Microsatellite instability and DNA mismatch repair deficiency testing in hereditary and sporadic gastrointestinal cancers
A Gologan et al.
CLINICS IN LABORATORY MEDICINE (2005)
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features
V Lougaris et al.
IMMUNOLOGICAL REVIEWS (2005)
Immunodeficiency and infections in ataxia-telangiectasia
A Nowak-Wegrzyn et al.
JOURNAL OF PEDIATRICS (2004)
Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin M syndrome with cholangiopathy
DA Jacobsohn et al.
PEDIATRICS (2004)
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002
AR Gennery et al.
BLOOD (2004)
Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency
M Tahara et al.
NATURE MEDICINE (2004)
CD40/CD154 interactions at the interface of tolerance and immunity
SA Quezada et al.
ANNUAL REVIEW OF IMMUNOLOGY (2004)
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency
P Quartier et al.
CLINICAL IMMUNOLOGY (2004)
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination
K Imai et al.
NATURE IMMUNOLOGY (2003)
Gene-targeted mice lacking the Ung uracil-DNA glycosylase develop B-cell lymphomas
H Nilsen et al.
ONCOGENE (2003)
Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency
N Kutukculer et al.
JOURNAL OF PEDIATRICS (2003)
Transcription-targeted DNA deamination by the AID antibody diversification enzyme
J Chaudhuri et al.
NATURE (2003)
ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch μ region
Q Pan-Hammarström et al.
JOURNAL OF IMMUNOLOGY (2003)
The X-linked hyper-IgM syndrome - Clinical and immunologic features of 79 patients
JA Winkelstein et al.
MEDICINE (2003)
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
S Ferrari et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Coexpression of normal and mutated CD40 ligand with deletion of a putative RNA lariat branchpoint sequence in X-linked hyper-IgM syndrome
XM Zhu et al.
CLINICAL IMMUNOLOGY (2001)
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
A Jain et al.
NATURE IMMUNOLOGY (2001)
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
R Döffinger et al.
NATURE GENETICS (2001)
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
J Zonana et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome
Y Minegishi et al.
CLINICAL IMMUNOLOGY (2000)
Absence of platelet CD40L identifies patients with X-linked hyper IgM syndrome
DP Inwald et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2000)
Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease
M Cavazzana-Calvo et al.
SCIENCE (2000)
Correction of the Hyper-IgM syndrome after liver and bone marrow transplantation.
N Hadzic et al.
NEW ENGLAND JOURNAL OF MEDICINE (2000)
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
P Revy et al.
CELL (2000)
Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme
M Muramatsu et al.
CELL (2000)
Share Paper
