(Q37943798)

25 August 2017

Immunological aspects of 22q11.2 deletion syndrome (English)

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25 August 2017

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A R Gennery

1

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25 August 2017

9 October 2011

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Cellular and Molecular Life Sciences

25 August 2017

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25 August 2017

69

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25 August 2017

1

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25 August 2017

17-27

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https://scigraph.springernature.com/pub.10.1007/s00018-011-0842-z

25 August 2017

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cites work

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Velo-cardio-facial syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

A new concept of the cellular basis of immunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

DiGeorge anomaly associated with 10p deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

When half is not enough: gene expression and dosage in the 22q11 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

The Chd family of chromatin remodelers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Chromatin remodeling proteins interact with pericentrin to regulate centrosome integrity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Features of DiGeorge syndrome and CHARGE association in five patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Cellular and molecular events during early thymus development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Early human T cell development: analysis of the human thymus at the time of initial entry of hematopoietic stem cells into the fetal thymic microenvironment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Thymic generation and regeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

The tumor necrosis factor family receptors RANK and CD40 cooperatively establish the thymic medullary microenvironment and self-tolerance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Hassall's corpuscles instruct dendritic cells to induce CD4+CD25+ regulatory T cells in human thymus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Thymus microenvironment in human primary immunodeficiency diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Immunological abnormalities in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

An unusual concurrence of graft versus host disease caused by engraftment of maternal lymphocytes with DiGeorge anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Immunologic reconstitution in 22q deletion (DiGeorge) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Transplantation of thymus tissue in complete DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

21 January 2018

Thymus transplantation

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Factors affecting success of thymus transplantation for complete DiGeorge anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Aire regulates negative selection of organ-specific T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

The cellular mechanism of Aire control of T cell tolerance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Thymocyte-thymocyte interaction for efficient positive selection and maturation of CD4 T cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Humoral immunity in DiGeorge syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Association between hypoparathyroidism and defective T cell immunity in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Selective IgM deficiency and 22q11.2 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Diversification, not use, of the immunoglobulin VH gene repertoire is restricted in DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Live viral vaccines in a DiGeorge syndrome patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Development of specific T-cell responses to Candida and tetanus antigens in partial DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Infections and autoimmune diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Autoimmunity in Wiskott-Aldrich syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0842-Z

Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

21 January 2018

1 reference

12 December 2020

Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome

1 reference

12 December 2020

Deconstructing DiGeorge syndrome

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion

1 reference

12 December 2020

Post-Natal Ontogenesis of the T-Cell Receptor CD4 and CD8 Vβ Repertoire and Immune Function in Children with DiGeorge Syndrome

1 reference

12 December 2020

Selective polysaccharide antibody deficiency in familial DiGeorge syndrome

1 reference

12 December 2020

Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome

1 reference

12 December 2020

An alternate pathway for CD4 T cell development: thymocyte-expressed MHC class II selects a distinct T cell population

1 reference

12 December 2020

Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)

1 reference

12 December 2020

Foetal thymic transplant in a case of Digeorge's syndrome.

1 reference

12 December 2020

Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

1 reference

12 December 2020

Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome.

1 reference

12 December 2020

Immunologic defects in 22q11.2 deletion syndrome

1 reference

12 December 2020

T cell immunodeficiency in a patient with 10p deletion syndrome

1 reference

12 December 2020

Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos

1 reference

12 December 2020

Deletion in chromosome region 22q11 in a child with CHARGE association.

1 reference

12 December 2020

Low thymic output in the 22q11.2 deletion syndrome measured by CCR9+CD45RA+ T cell counts and T cell receptor rearrangement excision circles

1 reference

12 December 2020

Safety and immunogenicity of measles–mumps–rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome)

1 reference

12 December 2020

Establishment of immunological competence in a child with congenital thymic aplasia by a graft of fetal thymus

1 reference

12 December 2020

1 reference

12 December 2020

Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome

1 reference

12 December 2020

Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)

1 reference

12 December 2020

Early development of immunity in diGeorge syndrome.

1 reference

12 December 2020

Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?

1 reference

12 December 2020

Repeated cytogenetic culture failure as an indicator of immunodeficiency

1 reference

12 December 2020

10.1007/S00018-011-0842-Z

Identifiers

DOI

1 reference

25 August 2017

1 reference

PubMed ID

21984609