Immunological abnormalities associated with hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder related to mutations in one of the coreceptors to the transforming growth factor‐β superfamily (ALK1 or endoglin). Besides the obvious vascular symptoms (epistaxis and arteriovenous malformations), patients have an unexplained high risk of severe bacterial infections. The aim of the study was to assess the main immunological functions of patients with HHT using the standard biological tests for primary immunodeficiencies.

[1]  R. Sadler,et al.  Immunophenotyping of putative human B1 B cells in healthy controls and common variable immunodeficiency (CVID) patients , 2012, Clinical and experimental immunology.

[2]  L. Liaw,et al.  BMP9 regulates endoglin-dependent chemokine responses in endothelial cells. , 2012, Blood.

[3]  R. Abraham.  Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies , 2011, Clinical and molecular allergy : CMA.

[4]  A. Mahdi,et al.  Oral iron supplementation leads to oxidative imbalance in anemic women: a prospective study. , 2011, Clinical nutrition.

[5]  S. Dupuis-Girod,et al.  Maladie de Rendu-Osler - Dysfonctionnement de la signalisation TGFβ dans les cellules endothéliales , 2010 .

[6]  S. Dupuis-Girod,et al.  Hereditary hemorrhagic telangiectasia: from molecular biology to patient care , 2010, Journal of thrombosis and haemostasis : JTH.

[7]  M. Goumans,et al.  Impaired recruitment of HHT-1 mononuclear cells to the ischaemic heart is due to an altered CXCR4/CD26 balance. , 2010, Cardiovascular research.

[8]  G. Winslow,et al.  IgM in microbial infections: taken for granted? , 2009, Immunology letters.

[9]  Sudhir Gupta,et al.  Clinical and Immunological Features in IgM Deficiency , 2009, International Archives of Allergy and Immunology.

[10]  C. Shovlin,et al.  Hereditary haemorrhagic telangiectasia: a clinical and scientific review , 2009, European Journal of Human Genetics.

[11]  A. Ikinciogullari,et al.  Selective Immunoglobulin M Deficiency Presenting with Recurrent Impetigo: A Case Report and Review of the Literature , 2009, International Archives of Allergy and Immunology.

[12]  Julise Cunha Miranda,et al.  Phagocytosis, Oxidative Burst, and Produced Reactive Species are Affected by Iron Deficiency Anemia and Anemia of Chronic Diseases in Elderly , 2009, Biological Trace Element Research.

[13]  T. Otsuki,et al.  Exercise-induced oxidative DNA damage and lymphocytopenia in sedentary young males. , 2008, Medicine and science in sports and exercise.

[14]  James Evans,et al.  Brain Abscess and Hereditary Hemorrhagic Telangiectasia , 2008, Southern medical journal.

[15]  L. David,et al.  Bone Morphogenetic Protein-9 Is a Circulating Vascular Quiescence Factor , 2008, Circulation research.

[16]  E. Kulinskaya,et al.  Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia , 2007, Thorax.

[17]  J. Saurin,et al.  Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association. , 2007, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

[18]  L. David,et al.  Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. , 2007, Blood.

[19]  E. Vries.  Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update , 2006 .

[20]  E. de Vries.  Patient‐centred screening for primary immunodeficiency: a multi‐stage diagnostic protocol designed for non‐immunologists , 2006, Clinical and experimental immunology.

[21]  L. Mouthon,et al.  Orientation diagnostique devant une lymphopénie , 2006, La Presse Médicale.

[22]  E. Jirillo,et al.  Patients with Hereditary Hemorrhagic Telangectasia (HHT) exhibit a deficit of polymorphonuclear cell and monocyte oxidative burst and phagocytosis: a possible correlation with altered adaptive immune responsiveness in HHT. , 2006, Current pharmaceutical design.

[23]  C. Schmidt‐Weber,et al.  TGF-β signaling of human T cells is modulated by the ancillary TGF-β receptor endoglin , 2005 .

[24]  A. Plebani,et al.  The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency. , 2005, The Journal of allergy and clinical immunology.

[25]  E. Coto,et al.  Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. , 2004, Clinical chemistry.

[26]  M. Ratajczak,et al.  CXCR4–SDF-1 Signalling, Locomotion, Chemotaxis and Adhesion , 2003, Journal of Molecular Histology.

[27]  J. Morrow,et al.  Prolonged exercise, lymphocyte apoptosis and F2-isoprostanes , 2002, European Journal of Applied Physiology.

[28]  C. Leport,et al.  Recurrent Staphylococcus aureus extracerebral infections complicating hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease). , 2001, The American journal of medicine.

[29]  M. Boes,et al.  Role of natural and immune IgM antibodies in immune responses. , 2000, Molecular immunology.

[30]  A. Guttmacher,et al.  Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). , 2000, American journal of medical genetics.

[31]  Y. Wei,et al.  Enhanced oxidative stress in haemodialysis patients receiving intravenous iron therapy. , 1999, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[32]  Y. Hansmann,et al.  Maladie de Rendu-Osler et abcs hpatique , 2010 .

[33]  S. Dupuis-Girod,et al.  [Rendu-Osler disease: clinical and molecular update]. , 2010, Medecine sciences : M/S.

[34]  V. Cottin,et al.  Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. , 2007, Medicine.

[35]  L. Mouthon,et al.  [Diagnosis of lymphocytopenia]. , 2006, Presse medicale.

[36]  Z. Karakaş,et al.  The effect of iron deficiency anemia on the function of the immune system. , 2005, The hematology journal : the official journal of the European Haematology Association.

[37]  C. Schmidt‐Weber,et al.  TGF-{beta} signaling of human T cells is modulated by the ancillary TGF-{beta} receptor endoglin. , 2005, International immunology.