The importance of rare diseases: from the gene to society

Dodge, J A; Chigladze, Tamara; Donadieu, Jean; Grossman, Zachi; Ramos, Feliciano J.; Serlicorni, Angelo; Siderius, Liesbeth; Stefanidis, Constantinos J.; Tasic, Velibor; Valiulis, Arūnas; Wierzba, Jolanta

doi:10.1136/adc.2010.193664

Cited by 59 publications

(53 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Rare monogenic diseases represent an important medical and social issue in its own right, cumulatively affecting 25 million patients in North America alone [14]. Importantly, however, the study of rare diseases, such as LAD-I, is not only relevant to the treatment of patients with these specific disorders; these diseases constitute real-life models to understand human biology and (patho)physiological mechanisms, thereby providing critical insights into common diseases [15-18]. …”

Section: Introductionmentioning

confidence: 99%

Role of bacteria in leukocyte adhesion deficiency-associated periodontitis

Hajishengallis

Moutsopoulos

2016

Microbial Pathogenesis

View full text Add to dashboard Cite

Leukocyte adhesion deficiency Type I (LAD-I)–associated periodontitis is an aggressive form of inflammatory bone loss that has been historically attributed to lack of neutrophil surveillance of the periodontal infection. However, this form of periodontitis has proven unresponsive to antibiotics and/or mechanical removal of the tooth-associated biofilm. Recent studies in LAD-I patients and relevant animal models have shown that the fundamental cause of LAD-I periodontitis involves dysregulation of a granulopoietic cytokine cascade. This cascade includes interleukin IL-23 (IL-23) and IL-17 that drive inflammatory bone loss in LAD-I patients and animal models and, moreover, foster a nutritionally favorable environment for bacterial growth and development of a compositionally unique microbiome. Although the lack of neutrophil surveillance in the periodontal pockets might be expected to lead to uncontrolled bacterial invasion of the underlying connective tissue, microbiological analyses of gingival biopsies from LAD-I patients did not reveal tissue-invasive infection. However, bacterial lipopolysaccharide was shown to translocate into the lesions of LAD-I periodontitis. It is concluded that the bacteria serve as initial triggers for local immunopathology through translocation of bacterial products into the underlying tissues where they unleash the dysregulated IL-23–IL-17 axis. Subsequently, the IL-23/IL-17 inflammatory response sustains and shapes a unique local microbiome which, in turn, can further exacerbate inflammation and bone loss in the susceptible host.

show abstract

Section: Introductionmentioning

confidence: 99%

Role of bacteria in leukocyte adhesion deficiency-associated periodontitis

Hajishengallis

Moutsopoulos

2016

Microbial Pathogenesis

View full text Add to dashboard Cite

show abstract

“…A editorial in this journal5 discusses a Pan European proposal for a policy on rare diseases and states that, working together, “we will ensure the provision of sufficient services for expert diagnosis or confirmation of diagnosis”. In 2010, the UK's Chief Medical Officer pointed to the lack of awareness and effective services for rare diseases in the UK.…”

Section: Introductionmentioning

confidence: 99%

Ataxia telangiectasia: presentation and diagnostic delay

Devaney¹,

Pasalodos

Suri

et al. 2016

Arch Dis Child

View full text Add to dashboard Cite

show abstract

“…Generell zählen genetische bzw. monogene Erkrankungen zu den der häufigsten Grün-den für pädiatrische Krankenhausaufenthalte und verursachen 35 % aller Todesfälle bei Kindern im Alter unter einem Jahr [4].…”

Section: » Genetische Bzw Monogene Erkrankungen Verursachen 35 % Allunclassified

Angewandte Genetik in der Pädiatrie

Wortmann

Duba

2018

Monatsschr Kinderheilkd

View full text Add to dashboard Cite

The importance of rare diseases: from the gene to society

Cited by 59 publications

References 2 publications

Role of bacteria in leukocyte adhesion deficiency-associated periodontitis

Role of bacteria in leukocyte adhesion deficiency-associated periodontitis

Ataxia telangiectasia: presentation and diagnostic delay

Angewandte Genetik in der Pädiatrie

Contact Info

Product

Resources

About