Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). (Q42057283)

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2 February 2020

title

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

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6

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author name string

R Zemble

1

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2 February 2020

E Luning Prak

2

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K McDonald

3

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2 February 2020

D McDonald-McGinn

4

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E Zackai

5

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publication date

15 May 2010

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2 February 2020

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2 February 2020

volume

136

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page(s)

409-418

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issue

3

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Homeostatic proliferation and survival of naïve and memory T cells

2 February 2020

cites work

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Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome

5 June 2018

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Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

5 June 2018

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

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Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

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TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

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The Philadelphia story: the 22q11.2 deletion: report on 250 patients

5 June 2018

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

5 June 2018

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5 June 2018

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5 June 2018

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

5 June 2018

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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

5 June 2018

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

5 June 2018

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Humoral immunity in DiGeorge syndrome.

5 June 2018

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5 June 2018

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Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?

5 June 2018

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The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome

5 June 2018

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Prediction of persistent immunodeficiency in the DiGeorge anomaly

5 June 2018

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Selective polysaccharide antibody deficiency in familial DiGeorge syndrome

5 June 2018

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The spectrum of the DiGeorge syndrome

5 June 2018

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5 June 2018

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Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

17 August 2018

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17 August 2018

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17 August 2018

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

17 August 2018

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17 August 2018

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17 August 2018

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

17 August 2018

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

17 August 2018

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Maintenance of serological memory by polyclonal activation of human memory B cells.

17 August 2018

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A LAT mutation that inhibits T cell development yet induces lymphoproliferation

17 August 2018

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Induction of T helper type 2 immunity by a point mutation in the LAT adaptor

17 August 2018

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

17 August 2018

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T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome

17 August 2018

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Clinical and immunologic spectrum of the DiGeorge syndrome

1 December 2018

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12 December 2020

Hypogammaglobulinaemia in DiGeorge sequence

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The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder

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The pathology of Omenn's syndrome

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CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition

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

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T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly

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

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DiGeorge syndrome with Graves' disease: A case report

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Velocardiofacial Syndrome

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B cell co-receptors regulating T cell-dependent antibody production in common variable immunodeficiency: CD27 pathway defects identify subsets of severely immuno-compromised patients

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Homeostatic expansion occurs independently of costimulatory signals

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Graves' disease in patients with 22q11.2 deletion

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Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease

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Long-term assessment of T-cell populations in DiGeorge syndrome

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12 December 2020

10.1016/J.CLIM.2010.04.011

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20472505%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

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2 February 2020

1 reference