Lupus Like Lesions in a Patient with X-Linked Chronic Granulomatous Disease and Recombinant X Chromosome

Ortiz‐Romero, Pablo L.; Corell, Alfredo; López-Estebaranz, J L; Arranz, F. Revenga; Ruiz–Contreras, Jesús

doi:10.1159/000245963

Cited by 19 publications

(12 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Altered polyamine levels in skeletal muscle of patients with myasthenia gravis [71] seen on rare occasions in suffers (males) and carriers (females) of X-linked chronic granulomatous disease (X-CGD), a disease not normally considered as an AID [74,75]. X-CGD is attributed to abnormalities in the cytochrome b-245 beta chain gene located at Xp21.2 in the X chromosome short arm (Xp).…”

Section: Myasthenia Gravismentioning

confidence: 99%

Autoimmune Diseases and Polyamines

Brooks

2011

Clinic Rev Allerg Immunol

View full text Add to dashboard Cite

Genetics and environmental factors have important roles in autoimmune diseases but neither has given us sufficient understanding of these mysterious diseases. Therefore, we are now looking closer at epigenetics, an interface between genetics and environmental factors. Epigenetics can be defined as reversible heritable changes to chromatin that can alter gene expression without altering the gene's DNA sequence. Methylation of DNA and histones are primary means of epigenetic control. By adding methyl groups to DNA and histones, it can limit accessibility of the underlying gene thereby altering the amount of gene expression. The methyl group is derived from an essential molecule in the cell, S-adenosylmethionine (SAM). However, a group of small molecules called polyamines also require SAM for their synthesis. Polyamines are essential for many cellular functions and polyamine activity is increased in many autoimmune diseases. Presented here is the "polyamine hypothesis" in which increased polyamine synthesis competes with cellular methylation (epigenetic control) for SAM. It is proposed that increased polyamine activity can cause disruption of cellular methylation, which can lead to abnormal expression of previously sequestered genes and disruption of other methylation-dependent cellular processes.

show abstract

Section: Myasthenia Gravismentioning

confidence: 99%

Autoimmune Diseases and Polyamines

Brooks

2011

Clinic Rev Allerg Immunol

View full text Add to dashboard Cite

show abstract

“…The relevance of X-CGD to autoimmune diseases comes from a number of reports on SLE-like symptoms appearing in X-CGD patients and mothers who carry the X-CGD trait [55,56]. This suggests that aberrations at Xp21.2 set up the possibility for overexpression of genes from that region and that over-expression is somehow involved in the subsequent autoimmune symptoms.…”

Section: Autoimmunity and X Chromosome Vulnerabilitymentioning

confidence: 99%

X Chromosome Inactivation and Autoimmunity

Brooks

2009

Clinic Rev Allerg Immunol

View full text Add to dashboard Cite

Autoimmune diseases appear to have multiple contributing factors including genetics, epigenetics, environmental factors, and aging. The predominance of females among patients with autoimmune diseases suggests possible involvement of the X chromosome and X chromosome inactivation. X chromosome inactivation is an epigenetic event resulting in multiple levels of control for modulation of the expression of X-linked genes in normal female cells such that there remains only one active X chromosome in the cell. The extent of this control is unique among the chromosomes and has the potential for problems when regulation is disrupted. Here we discuss the X chromosome inactivation process and how the X chromosome and X chromosome inactivation may be involved in development of autoimmune disorders.

show abstract

“…Patients often develop signiWcant pulmonary dysfunction due to their recurrent pneumonias and non-infectious inXammatory granulomas. Almost 10% of patients eventually require oxygen supplementation due to hypoxia [5][6][7][8][9][10][11][12][13].…”

Section: Autoimmune Sequelaementioning

confidence: 99%

Advances in treatment for chronic granulomatous disease

Kang

Malech

2008

Immunol Res

View full text Add to dashboard Cite

Chronic granulomatous disease (CGD) is a rare congenital disorder resulting from a failure of neutrophils to produce oxidases. Patients are therefore prone to recurrent infections from various organisms including fungi and atypical bacteria. The mortality in patients with the X-linked form of CGD, the most common type, ranges from 3% to 5% per year and although management of infections has improved with advances in antimicrobial therapies, better methods are needed to be able to cure these patients. Peripheral blood stem cell or bone marrow transplantation, while curative, is not widely used due to the episodic nature of the infections and the belief by many that conservative management is preferable to the risks of transplantation. Still, as will be discussed, improvements in the field are making allogenic transplantation more desirable and tilting the risk benefit ratio in favor of this modality. Additionally, gene therapy, which has been a long touted method to cure CGD, has within the last 5-10 years become more and more of a reality and may be realized by the end of this decade.

show abstract

Lupus Like Lesions in a Patient with X-Linked Chronic Granulomatous Disease and Recombinant X Chromosome

Cited by 19 publications

References 0 publications

Autoimmune Diseases and Polyamines

Autoimmune Diseases and Polyamines

X Chromosome Inactivation and Autoimmunity

Advances in treatment for chronic granulomatous disease

Contact Info

Product

Resources

About