(Q38116775)

29 August 2017

title

The hyper IgM syndromes (English)

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29 August 2017

Nashmia Qamar

1

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29 August 2017

Ramsay L Fuleihan

series ordinal

2

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29 August 2017

publication date

1 April 2014

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Clinical Reviews in Allergy & Immunology

29 August 2017

published in

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29 August 2017

volume

46

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29 August 2017

issue

2

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29 August 2017

page(s)

120-130

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Role of CD40-CD40-ligand interaction in Ig-isotype switching

29 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Cyclosporin A inhibits CD40 ligand expression in T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Update on the hyper immunoglobulin M syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Cloning of TRAP, a ligand for CD40 on human T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40 and its crucial role as a member of the TNFR family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Hyper IgM syndrome associated with defective CD40-mediated B cell activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Humoral immune responses in CD40 ligand-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Transcription-targeted DNA deamination by the AID antibody diversification enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Immunodeficiencies due to defects of class-switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Microsatellite instability and DNA mismatch repair deficiency testing in hereditary and sporadic gastrointestinal cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

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)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

21 January 2018

The hyper IgM syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Clinical spectrum of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Small cell undifferentiated carcinoma of the colon associated with hepatocellular carcinoma in an immunodeficient patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

B cell activation via CD40 is required for specific antibody production by antigen-stimulated human B cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Absence of platelet CD40L identifies patients with X-linked hyper IgM syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Immunodeficiency and infections in ataxia-telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Generation of memory B cells and plasma cells in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

The role of CD40 ligand in costimulation and T-cell activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

An essential role for gp39, the ligand for CD40, in thymic selection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40/CD154 interactions at the interface of tolerance and immunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

DNA-uracil and human pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Gene-targeted mice lacking the Ung uracil-DNA glycosylase develop B-cell lymphomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin m syndrome with cholangiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40-CD40 ligand interaction in autoimmune disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Coexpression of normal and mutated CD40 ligand with deletion of a putative RNA lariat branchpoint sequence in X-linked hyper-IgM syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12016-013-8378-7

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization

21 January 2018

1 reference

12 December 2020

Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency

1 reference

12 December 2020

Critical function of the CD40 pathway in parvovirus B19 infection revealed by a hypomorphic CD40 ligand mutation

1 reference

12 December 2020

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

1 reference

12 December 2020

The X-linked hyperimmunoglobulin M syndrome

1 reference

12 December 2020

Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST

1 reference

12 December 2020

Mice deficient for the CD40 ligand

1 reference

12 December 2020

CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers

1 reference

12 December 2020

Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases

1 reference

12 December 2020

Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction

1 reference

12 December 2020

Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome

1 reference

12 December 2020

Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation

1 reference

12 December 2020

Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. Abortive germinal center cell reaction and severe depletion of follicular dendritic cells.

1 reference

12 December 2020

First report of successful stem cell transplantation in a child with CD40 deficiency

1 reference

12 December 2020

Correction of the hyper-IgM syndrome after liver and bone marrow transplantation

1 reference

12 December 2020

Brief report: prenatal diagnosis of X-linked hyper-IgM syndrome

1 reference

12 December 2020

Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation

1 reference

12 December 2020

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

1 reference

12 December 2020

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

1 reference

12 December 2020

IL-12 protects immunocompetent and immunodeficient neonatal mice against infection with Cryptosporidium parvum.

1 reference

12 December 2020

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

1 reference

12 December 2020

History of primary immunodeficiency diseases

1 reference

12 December 2020

[An example of atypical agammaglobulinemia (a case of severe hypogammaglobulinemia with increase of the beta-2 macroglobulin.]

1 reference

12 December 2020

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression

1 reference

12 December 2020

Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells

1 reference

12 December 2020

CD40-CD40 ligand interaction is central to cell-mediated immunity against Toxoplasma gondii: patients with hyper IgM syndrome have a defective type 1 immune response that can be restored by soluble CD40 ligand trimer

1 reference

12 December 2020

Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome

1 reference

12 December 2020

Successful treatment of neutropenia in the hyper-immunoglobulin M syndrome with granulocyte colony-stimulating factor

1 reference

12 December 2020

The role of CD40/CD154 interactions in the priming, differentiation, and effector function of helper and cytotoxic T cells

1 reference

12 December 2020

Immunodeficiency with hyper-IgM (HIM)

1 reference

12 December 2020

Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM.

1 reference

12 December 2020

10.1007/S12016-013-8378-7

Identifiers

DOI

1 reference

Dimensions Publication ID

29 August 2017

1005750497

0 references

1 reference