Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux

Silberpfennig, J.; Schlesinger, Benno; Faragó, I; Bürki, E.; Wilder, Joseph; Wolf-Heidegger, Gerhard; Helsmoortel, Jérôme; Myle, G; Kessler, Emma; Ectors, L; Gray, Mike; Moore, Merrill; Raymond, A.B. Alice F.; Gautier, Pierre-Étienne; Henny, G.; Bamatter, F; Penard, S.; Brunnschweiler, H; Jentzer, A; Rossier, Philippe; Morsier, G. de; Franceschetti, A; Streiff, E B; Monnier, M.; Monnier, Patricia; Montandon, A; Barré, J; Rosen, Lucien

doi:10.1159/000106149

Cited by 212 publications

(3 citation statements)

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“…The ataxia telangiectasia (AT) is a rare autosomal recessive disease, relatively common in the Mediterranean area [6]. Described for the first time by Louis-Bar in 1941 [7], it is a monogenic disease whose gene is located in 11q22-23 that was cloned in 1995 by Savitsky et al [8]. The diagnosis of this disease is usually based on a clinical triad of neurologic signs, dominated by an evolutive static cerebellar syndrome, consisting of dyssynergia, intentional tremor, adiadochokinesia, and complete hypotonia leading to loss of ambulation generally diagnosed around the age of 2 years old and bedridden state in adolescence with stature-weight impact.…”

Section: Discussionmentioning

confidence: 99%

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Serhane¹,

Louhab²,

Sajiai³

et al. 2015

CRCM

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Ataxia Telangiectasia (AT) is a rare autosomal recessive multisystem disease. The diagnosis is often made on a clinical triad that combines neurological signs dominated by a progressive cerebellar ataxia, oculocutaneous signs (telangiectasia, coffee stain milk), immunodeficiency (humoral and cellular) with sinopulmonary infections and elevated alphaphetoprotein. The diagnosis of AT is usually early, however, some forms may be revealed late. We reported a case of a 19-year-old patient, admitted for severe pneumonia with Klebsiella Pneumonia. In its history, it was found a notion of recurrent respiratory infections and bronchiectasis. In its clinical examination, it had been discovered cerebellar ataxia and occulocutaneous telangiectasia. The determination of plasmatic alphafoetoprotein was elevated, and the search of immunodeficiency showed a mixed deficit (humoral and cellular) suggesting the diagnosis of AT.

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Section: Discussionmentioning

confidence: 99%

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Serhane¹,

Louhab²,

Sajiai³

et al. 2015

CRCM

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“…Ataxia–telangiectasia (A-T; Louis-Bar Syndrome) was first described in 1941 ( 88 ) and further characterized by Boder and Segwick 1958 ( 89 ). A-T is caused by mutations in the gene ATM (Ataxia Telangiectasia, Mutated) on human chromosome 11 (11q22.3) ( 90 ).…”

Section: Ataxia–telangiectasia (A-t)mentioning

confidence: 99%

Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens

Fasshauer,

Dinges,

Staudacher

et al. 2024

Front. Pediatr.

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In patients with severe and recurrent infections, minimal diagnostic workup to test for Inborn Errors of Immunity (IEI) includes a full blood count, IgG, IgA and IgM. Vaccine antibodies against tetanus toxoid are also frequently measured, whereas testing for anti-polysaccharide IgG antibodies and IgG subclasses is not routinely performed by primary care physicians. This basic approach may cause a significant delay in diagnosing monogenic IEI that can present with an impaired IgG response to polysaccharide antigens with or without IgG subclass deficiency at an early stage. Our article reviews genetically defined IEI, that may initially present with an impaired IgG response to polysaccharide antigens, but normal or only slightly decreased IgG levels and normal responses to protein or conjugate vaccine antigens. We summarize clinical, genetic, and immunological findings characteristic for these IEI. This review may help clinicians to identify patients that require extended immunologic and genetic evaluations despite unremarkable basic immunologic findings. We recommend the inclusion of anti-polysaccharide IgG antibodies as part of the initial routine work-up for possible IEI.

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“…Its estimated incidence is about 1/300.000 live births (7). AT was first reported by Syllaba and Henner in 1926 (8), further characterized by Denise Louis-Bar (9), and finally named by Boder and Sedgwick (10).…”

Section: Clinical and Immunological Features Of Atmentioning

confidence: 99%

Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle?

2019

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Epstein-Barr virus (EBV) is an ubiquitous herpesvirus with a tropism for epithelial cells (where lytic replication occurs) and B-cells (where latency is maintained). EBV persists throughout life and chronic infection is asymptomatic in most individuals. However, immunocompromised patients may be unable to control EBV infection and are at increased risk of EBV-related malignancies, such as diffuse large B-cell lymphomas or Hodgkin's lymphomas. Ataxia telangiectasia (AT) is a primary immunodeficiency caused by mutations in the ATM gene and associated with an increased incidence of cancers, particularly EBV-associated lymphomas. However, the immune deficiency present in AT patients is often too modest to explain the increased incidence of EBV-related malignancies. The ATM defect in these patients could therefore impair the normal regulation of EBV latency in B-cells, thus promoting lymphomagenesis. This suggests that ATM plays a role in the normal regulation of EBV latency. ATM is a serine/threonine kinase involved in multiple cell functions such as DNA damage repair, cell cycle regulation, oxidative stress, and gene expression. ATM is implicated in the lytic cycle of EBV, where EBV uses the activation of DNA damage repair pathway to promote its own replication. ATM regulates the latent cycle of the EBV-related herpesvirus KSHV and MHV68. However, the contribution of ATM in the control of the latent cycle of EBV is not yet known. A better understanding of the regulation of EBV latency could be harnessed in the conception of novel therapeutic strategies in AT and more generally in all ATM deficient EBV-related malignancies.

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Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux

Cited by 212 publications

References 0 publications

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens

Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle?

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