Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center

Giardino, Giuliana; Radwan, Nesrine; Koletsi, Patra; Morrogh, Deborah; Adams, Stuart; Ip, Winnie; Worth, Austen; Jones, Alison; Meyer-Parsonson, Imke; Gaspar, H. Bobby; Gilmour, Kimberly; Davies, E. Graham; Ladomenou, Fani

doi:10.1182/blood.2018885244

Cited by 50 publications

(67 citation statements)

References 49 publications

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“…CD4 and CD8 compartments are similarly affected (78). T-cell number and percentage tend to increase during the follow up starting from the first year of life (78). Naive CD4 and CD8 lymphocytes are lower in pDGS patients compared to controls independently of age and they decline more rapidly with age (78).…”

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

“…miRNA-4273 regulates the expression of Bmp3, a member of the transforming growth factor β superfamily, involved in thymus and kidney development (104) DGS has a prevalence of 1:4,000 newborns (79,110). Most of these patients present with thymic and parathyroid hypoplasia, congenital heart defects, and craniofacial dysmorphisms (78,79). Thymic development ranges from athymia in complete DGS (cDGS) to a completely normal thymus development in partial DGS (pDGS), resulting in a variable spectrum of T-cell deficiency (78,79,111).…”

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

“…T-cell number and percentage tend to increase during the follow up starting from the first year of life (78). Naive CD4 and CD8 lymphocytes are lower in pDGS patients compared to controls independently of age and they decline more rapidly with age (78). The improvement of the lymphopenia with age is not due to a recovery of the thymic function but to the peripheral homeostatic expansion of the available T cells, as suggested by the evidence that T cells are predominantly or almost exclusively of a memory phenotype, TRECs are low and the repertoire is oligoclonal (78,115,116).…”

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

“…T-cell proliferation, total immunoglobulins, and specific antibody response to vaccines are typically normal. IgM levels are often low, and some patients may show selective IgA deficiency (78). The study of the thymic architecture and thymocyte development in thymi obtained from pediatric pDGS patients revealed a reduction of mature CD4+ and CD8+ T cell frequency, associated with reduced proportion and function of T regulatory cells (Tregs) (117).…”

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

“…The majority of DGS patients suffer from chronic otitis media, which correlates with primarily conductive hearing impairment (78). Most patients have increased susceptibility to mild infections and only rarely to atypical or severe infections (78).…”

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

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T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features

Giardino¹,

Borzacchiello²,

Luca³

et al. 2020

Front. Immunol.

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Combined Immunodeficiencies (CID) are rare congenital disorders characterized by defective T-cell development that may be associated with Band NK-cell deficiency. They are usually due to alterations in genes expressed in hematopoietic precursors but in few cases, they are caused by impaired thymic development. Athymia was classically associated with DiGeorge Syndrome due to TBX1 gene haploinsufficiency. Other genes, implicated in thymic organogenesis include FOXN1, associated with Nude SCID syndrome, PAX1, associated with Otofaciocervical Syndrome type 2, and CHD7, one of the genes implicated in CHARGE syndrome. More recently, chromosome 2p11.2 microdeletion, causing FOXI3 haploinsufficiency, has been identified in 5 families with impaired thymus development. In this review, we will summarize the main genetic, clinical, and immunological features related to the abovementioned gene mutations. We will also focus on different therapeutic approaches to treat SCID in these patients.

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Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

Section: Digeorge Syndrome and 22q112 Deletionmentioning

confidence: 99%

See 3 more Smart Citations

T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features

Giardino¹,

Borzacchiello²,

Luca³

et al. 2020

Front. Immunol.

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Evans syndrome in the background of 22q11.2 deletion syndrome

Alawajneh,

Sameer,

Al Zobi

et al. 2024

Pediatric Blood & Cancer

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Evans syndrome in the background of 22q11.2 deletion syndromeTo the Editor: 22q11.2 Deletion syndrome (22q11.2DS) is a rare congenital disorder resulting in a variety of immunological changes, one of which is secondary immune cytopenias that tend to be recurrent and difficult to manage. 1,2 There is currently no standard regimen for treating immune cytopenias in 22q11.2DS. 3 We present two cases of Evans syndrome (ES) in the setting of 22q11.2DS with an absence of typical phenotypic features.The first case is of a previously healthy 18-year-old male who presented at age 16 with mucocutaneous bleeding and thrombocytopenia with a positive Coombs test, but without active hemolysis. His evaluation included computed tomography chest, abdomen, and pelvis, F I G U R E 1 Trend of hemoglobin and platelet count during treatment of autoimmune cytopenia.

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Inborn errors of thymic stromal cell development and function

2020

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As the primary site for T cell development, the thymus is responsible for the production and selection of a functional, yet self-tolerant T cell repertoire. This critically depends on thymic stromal cells, derived from the pharyngeal apparatus during embryogenesis. Thymic epithelial cells, mesenchymal and vascular elements together form the unique and highly specialised microenvironment required to support all aspects of thymopoiesis and T cell central tolerance induction. Although rare, inborn errors of thymic stromal cells constitute a clinically important group of conditions because their immunological consequences, which include autoimmune disease and T cell immunodeficiency, can be life-threatening if unrecognised and untreated. In this review, we describe the molecular and environmental aetiologies of the thymic stromal cell defects known to cause disease in humans, placing particular emphasis on those with a propensity to cause thymic hypoplasia or aplasia and consequently severe congenital immunodeficiency. We discuss the principles underpinning their diagnosis and management, including the use of novel tools to aid in their identification and strategies for curative treatment, principally transplantation of allogeneic thymus tissue.

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Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center

Cited by 50 publications

References 49 publications

T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features

T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features

Evans syndrome in the background of 22q11.2 deletion syndrome

Inborn errors of thymic stromal cell development and function

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