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

scientific article published on 15 May 2010

Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.CLIM.2010.04.011
P932PMC publication ID2917481
P698PubMed publication ID20472505
P5875ResearchGate publication ID44601718

P50authorKathleen E. SullivanQ44832717
P2093author name stringK McDonald
D McDonald-McGinn
E Zackai
E Luning Prak
R Zemble
P2860cites workRole of TBX1 in human del22q11.2 syndromeQ24298685
Partial V(D)J recombination activity leads to Omenn syndromeQ24336454
The Philadelphia story: the 22q11.2 deletion: report on 250 patientsQ28140691
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in miceQ28204189
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1Q28204282
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathwaysQ28511687
Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansionQ28512256
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndromeQ28512803
Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery developmentQ28589109
Sensitization (IgE antibody) to food allergens in wheezing infants and childrenQ30464423
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosisQ33595849
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)Q33655443
Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?Q33670194
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyQ33679532
Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cellsQ33700550
Homeostatic expansion of T cells during immune insufficiency generates autoimmunity.Q33977505
Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome.Q34415690
Maintaining the norm: T-cell homeostasisQ34770383
A population study of chromosome 22q11 deletions in infancyQ35261188
Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory diseaseQ35568601
Antibody deficiency and autoimmunity in 22q11.2 deletion syndromeQ35571176
T cell homeostasis in tolerance and immunityQ36128016
The sizes of the CDR3 hypervariable regions of the murine T-cell receptor beta chains vary as a function of the recombined germ-line segmentsQ36291877
Diversification, not use, of the immunoglobulin VH gene repertoire is restricted in DiGeorge syndromeQ36362304
Interleukin (IL)-15 and IL-7 jointly regulate homeostatic proliferation of memory phenotype CD8+ cells but are not required for memory phenotype CD4+ cellsQ36369770
Homeostatic expansion and phenotypic conversion of naïve T cells in response to self peptide/MHC ligandsQ36671094
Cytokines and T-cell homeostasisQ36791437
Spontaneous proliferation, a response of naive CD4 T cells determined by the diversity of the memory cell repertoire.Q37095109
IL-7 is critical for homeostatic proliferation and survival of naive T cellsQ37113213
T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assemblyQ77720696
A longitudinal analysis of SLE patients treated with rituximab (anti-CD20): factors associated with B lymphocyte recoveryQ80564566
Prevention of spontaneous arthritis by inhibiting homeostatic expansion of autoreactive CD4+ T cells in the K/BxN mouse modelQ82424450
Natural IgE production in the absence of MHC Class II cognate helpQ82872924
Hypogammaglobulinaemia in DiGeorge sequenceQ93528862
T cell homeostasis.Q37117568
Omenn syndrome: inflammation in leaky severe combined immunodeficiencyQ37321176
Homeostasis of naive and memory T cellsQ37356053
Homeostatic proliferation and survival of naïve and memory T cellsQ37564251
Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestationsQ38476363
The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndromeQ39518283
CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia.Q39626063
Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndromeQ39806773
Humoral immunity in DiGeorge syndromeQ40461047
The spectrum of the DiGeorge syndromeQ41635874
Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis.Q42695173
Selective polysaccharide antibody deficiency in familial DiGeorge syndromeQ43797757
Prediction of persistent immunodeficiency in the DiGeorge anomalyQ43937212
Induction of T helper type 2 immunity by a point mutation in the LAT adaptorQ44029002
A LAT mutation that inhibits T cell development yet induces lymphoproliferationQ44029004
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Q44540762
Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome.Q44895166
In vivo longitudinal analysis of a dominant TCR repertoire selected in human response to influenza virusQ45762273
T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndromeQ47587653
Early development of immunity in diGeorge syndrome.Q47824766
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.Q51905604
Clinical features of 78 adults with 22q11 Deletion Syndrome.Q51925287
The EUROclass trial: defining subgroups in common variable immunodeficiency.Q51971194
Expansion of functionally immature transitional B cells is associated with human-immunodeficient states characterized by impaired humoral immunity.Q51985343
B lymphocyte reconstitution after hematopoietic stem cell transplantation: functional immaturity and slow recovery of memory CD27+ B cells.Q51993431
Maintenance of serological memory by polyclonal activation of human memory B cells.Q52008907
Presenting phenotype in 100 children with the 22q11 deletion syndrome.Q52085444
Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Q52106652
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.Q52212966
Long-term assessment of T-cell populations in DiGeorge syndromeQ57996345
T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndromeQ58193933
Velocardiofacial SyndromeQ58857442
Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)Q61714879
Post-Natal Ontogenesis of the T-Cell Receptor CD4 and CD8 Vβ Repertoire and Immune Function in Children with DiGeorge SyndromeQ61714885
Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous diseaseQ62111763
Graves' disease in patients with 22q11.2 deletionQ62111826
The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorderQ69255215
CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated conditionQ71047892
The pathology of Omenn's syndromeQ71126303
Clinical and immunologic spectrum of the DiGeorge syndromeQ72093326
Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndromeQ73590802
DiGeorge syndrome with Graves' disease: A case reportQ73793467
B cell co-receptors regulating T cell-dependent antibody production in common variable immunodeficiency: CD27 pathway defects identify subsets of severely immuno-compromised patientsQ74114699
Homeostatic expansion occurs independently of costimulatory signalsQ77136906
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 diseaseQ77678228
P433issue3
P304page(s)409-418
P577publication date2010-05-15
P1433published inClinical ImmunologyQ15752921
P1476titleSecondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
P478volume136

Reverse relations

cites work (P2860)
Q3698823122q11.2 deletion syndrome
Q52642064A pilot study on immuno-psychiatry in the 22q11.2 deletion syndrome: A role for Th17 cells in psychosis?
Q51168850A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).
Q41151666Adoptive transfer of autologous T cells improves T-cell repertoire diversity and long-term B-cell function in pediatric patients with neuroblastoma.
Q99711424Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence
Q48636789Autoimmunity associated with chemically induced thymic dysplasia
Q91923337Candidate modifier genes for immune function in 22q11.2 deletion syndrome
Q41452524Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
Q37705233Clinical predictors of autoimmune and severe atopic disease in pediatric heart transplant recipients.
Q34786042Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor
Q32182385Graves' Disease in Pediatric and Elderly Patients with 22q11.2 Deletion Syndrome.
Q37921180Head and neck manifestations of 22q11.2 deletion syndromes.
Q36257777Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study
Q39206354Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia
Q37943798Immunological aspects of 22q11.2 deletion syndrome
Q48273912Increased Levels of Interferon-Inducible Protein 10 (IP-10) in 22q11.2 Deletion Syndrome
Q47140966Modulating Neuroinflammation to Treat Neuropsychiatric Disorders
Q37947135New frontiers in primary immunodeficiency disorders: immunology and beyond….
Q30278478Patterns of Allergic Sensitization in High IgE Syndromes
Q37108404Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome
Q89966092The Genetics and Epigenetics of 22q11.2 Deletion Syndrome
Q52765219The immune deficiency of chromosome 22q11.2 deletion syndrome.
Q37234148Transgenic expression of microRNA-185 causes a developmental arrest of T cells by targeting multiple genes including Mzb1.
Q30244646Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty
Q52713279Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
Q90154352Vitamin D status and the immune assessment in 22q11.2 deletion syndrome

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