Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity

Sloboda, N.; Sorlin, Arthur; Valduga, Mylène; Béri-Dexheimer, Mylène; Bilbault, Claire; Fouyssac, Fanny; Becker, Aurélie; Lambert, Laëtitia; Bonnet, Céline; Leheup, Bruno

doi:10.3389/fimmu.2019.01871

Cited by 6 publications

(4 citation statements)

References 26 publications

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“…It is well known that genes encoding ion channels in the brain are dosage-sensitive genes and have dominant traits [14,15]. In contrast, epilepsy was not observed in two siblings with large 7p22.3-p22.2 and 15q11.1-q11.2 deletions, emphasising the absence of epilepsy-related genes in the 7p22.3 deletion region [16] In addition to epilepsy, the patient A had other symptoms not previously mentioned in the 7p22.3 deletion, such as microcephaly, feeding problems and autistic traits. Further detailed analysis of the 7p22.3 microdeletion region did not reveal any genes directly associated with these additional abnormalities (Table 2).…”

Section: Discussionmentioning

confidence: 97%

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy

Skvortsova,

Perfilyeva,

Bespalova

et al. 2024

Preprint

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Background Chromosome 7 has regions enriched with low copy repeats (LCRs), which increase the likelihood of chromosomal microdeletion disorders. Documented microdeletion disorders on chromosome 7 include both well-known Williams syndrome and more rare cases. It is noteworthy that most cases of various microdeletions are characterized by phenotypic signs of neuropsychological developmental disorders, which, however, have a different genetic origin. The localization of the microdeletions, the genes included in the region, as well as the structural features of the sequences of these genes have a cumulative influence on the phenotypic characteristics of the individuals for each specific case and the severity of the manifestations of disorders. The consideration of these features and their detailed analysis is important for a correct and comprehensive assessment of the disease. Results The article describes a clinical case of 7p22.3 microdeletion in a patient with congenital heart defect and neurological abnormalities - epilepsy, combined with moderate mental and motor developmental delay. Conclusions Through detailed genetic analyses, we are improving the clinical description of the rare 7p22.3 microdeletion and thus creating a basis for future genetic counseling and research into targeted therapies.

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Section: Discussionmentioning

confidence: 97%

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy

Skvortsova,

Perfilyeva,

Bespalova

et al. 2024

Preprint

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“…We identified the loss of methylation associated with the SDK gene to be prominent in B cell memory. This could be related to the changes in numbers and function of B memory cells in familial cases reported where germline deletions delete or truncate this gene [ 41 ]. Perhaps the most unusual of these is the CAMTA1 gene, where we saw a significant decrease in methylation associated with the gene related to B cell memory.…”

Section: Discussionmentioning

confidence: 99%

Comparative analysis of the DNA methylation landscape in CD4, CD8, and B memory lineages

et al. 2022

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Background There is considerable evidence that epigenetic mechanisms and DNA methylation are critical drivers of immune cell lineage differentiation and activation. However, there has been limited coordinated investigation of common epigenetic pathways among cell lineages. Further, it remains unclear if long-lived memory cell subtypes differentiate distinctly by cell lineages. Results We used the Illumina EPIC array to investigate the consistency of DNA methylation in B cell, CD4 T, and CD8 T naïve and memory cells states. In the process of naïve to memory activation across the three lineages, we identify considerable shared epigenetic regulation at the DNA level for immune memory generation. Further, in central to effector memory differentiation, our analyses revealed specific CpG dinucleotides and genes in CD4 T and CD8 T cells with DNA methylation changes. Finally, we identified unique DNA methylation patterns in terminally differentiated effector memory (TEMRA) CD8 T cells compared to other CD8 T memory cell subtypes. Conclusions Our data suggest that epigenetic alterations are widespread and essential in generating human lymphocyte memory. Unique profiles are involved in methylation changes that accompany memory genesis in the three subtypes of lymphocytes.

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“…As GPER1 is expressed in different human immune cells (presented above) regulating their life span and/or activation, a crucial role of GPER1 in a wide range of immune-related disorders has been suggested. These include chronic inflammatory and autoimmune diseases as well as immunodeficiencies [recently GPER1 deletion has been reported to be central for a case of familial immunodeficiency ( 55 )]. For the scope of this review, we will concentrate on GPER1 involvement in inflammation-associated disorders.…”

Section: Gper1 Involvement In Immune-related Human Diseasesmentioning

confidence: 99%

G Protein-Coupled Estrogen Receptor in Immune Cells and Its Role in Immune-Related Diseases

2020

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G protein-coupled estrogen receptor 1 (GPER1), is a functional estrogen receptor involved in estrogen related actions on several systems including processes of the nervous, reproductive, metabolic, cardiovascular, and immune system. Regarding the latter, GPER is expressed in peripheral B and T lymphocytes as well as in monocytes, eosinophils, and neutrophils. Several studies have implicated GPER in immune-mediated diseases like multiple sclerosis, Parkinson’s disease, and atherosclerosis-related inflammation, while a recent report suggests that its deletion could be responsible for a form of familial immunodeficiency. It has also been suggested that it is a key regulator of immune-mediated events in breast, pancreatic, prostate, and hepatocellular cancer as well as in melanoma. GPER has been also reported to interact with classic ER-alpha or its splice variants in order to modify immune functions. This review aims to present current knowledge relating GPER to immune functions, the cellular and signaling pathways involved, as well as the potential clinical implications of GPER modulation in immune-related diseases.

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Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity

Cited by 6 publications

References 26 publications

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy

Comparative analysis of the DNA methylation landscape in CD4, CD8, and B memory lineages

G Protein-Coupled Estrogen Receptor in Immune Cells and Its Role in Immune-Related Diseases

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