Non organ‐specific autoimmunity in adult 47,XXY Klinefelter patients and higher‐grade X‐chromosome aneuploidies

Therapists, including rheumatologists, often forget that many autoimmune diseases are combined with endocrine pathology, in particular with thyroid pathology. These cases, according to the classification of N. Smith and A. Steinberg, belong to the 5th class - class E of autoimmune diseases, which includes conditions that manifest several autoimmune diseases, both organ-specific and organ-specific. In the literature, cases of combinations of endocrine diseases with non-endocrine autoimmune are described. It was noted that they are most often found in young women, which are associated with the X chromosome. We give our own observation of a patient with Sjogren's disease in combination with thyroid pathology.

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Evidence of increased humoral endocrine organ-specific autoimmunity in severe and classic X-chromosome aneuploidies in comparison with 46,XY control subjects

Autoimmunity ◽

10.1080/08916934.2018.1477134 ◽

2018 ◽

Vol 51 (4) ◽

pp. 175-182 ◽

Cited By ~ 4

Author(s):

Francesca Panimolle ◽

Claudio Tiberti ◽

Simona Granato ◽

Antonella Anzuini ◽

Carlotta Pozza ◽

...

Keyword(s):

X Chromosome ◽

Endocrine Organ ◽

Control Subjects ◽

Organ Specific

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In vivo FirreandDxz4deletion elucidates roles for autosomal gene regulation

10.1101/612440 ◽

2019 ◽

Cited By ~ 3

Author(s):

Daniel Andergassen ◽

Zachary D. Smith ◽

Jordan P. Lewandowski ◽

Chiara Gerhardinger ◽

Alexander Meissner ◽

...

Keyword(s):

Gene Regulation ◽

X Chromosome ◽

Autosomal Gene ◽

Double Deletion ◽

Gene Sets ◽

Specific Manner ◽

Main Driver ◽

Organ Specific ◽

Transcriptional Effect

AbstractRecent evidence has determined that the conserved X chromosome “mega-structures” controlled by theFirreandDxz4alleles are not required for X chromosome inactivation (XCI) in cell lines. Here we determined thein vivocontribution of these alleles by generating mice carrying a single or double deletion ofFirreandDxz4. We found that these mutants are viable, fertile and show no defect in random or imprinted XCI. However, the lack of these elements results in many dysregulated genes on autosomes in an organ-specific manner. By comparing the dysregulated genes between the single and double deletion, we identified superloop, megadomain, andFirrelocus dependent gene sets. The largest transcriptional effect was observed in all strains lacking theFirrelocus, indicating that this locus is the main driver for these autosomal expression signatures. Collectively, these findings suggest that these X-linked loci are involved in autosomal gene regulation rather than XCI biology.

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In vivo Firre and Dxz4 deletion elucidates roles for autosomal gene regulation

eLife ◽

10.7554/elife.47214 ◽

2019 ◽

Vol 8 ◽

Cited By ~ 5

Author(s):

Daniel Andergassen ◽

Zachary D Smith ◽

Jordan P Lewandowski ◽

Chiara Gerhardinger ◽

Alexander Meissner ◽

...

Keyword(s):

Gene Regulation ◽

X Chromosome ◽

Autosomal Gene ◽

Double Deletion ◽

Gene Sets ◽

Specific Manner ◽

Main Driver ◽

Organ Specific ◽

Transcriptional Effect

Recent evidence has determined that the conserved X chromosome mega-structures controlled by the Firre and Dxz4 loci are not required for X chromosome inactivation (XCI) in cell lines. Here, we examined the in vivo contribution of these loci by generating mice carrying a single or double deletion of Firre and Dxz4. We found that these mutants are viable, fertile and show no defect in random or imprinted XCI. However, the lack of these elements results in many dysregulated genes on autosomes in an organ-specific manner. By comparing the dysregulated genes between the single and double deletion, we identified superloop, megadomain, and Firre locus-dependent gene sets. The largest transcriptional effect was observed in all strains lacking the Firre locus, indicating that this locus is the main driver for these autosomal expression signatures. Collectively, these findings suggest that these X-linked loci are involved in autosomal gene regulation rather than XCI biology.

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