David Boutboul

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BACKGROUND Common variable immunodeficiency (CVID) is a primary immune deficiency defined by defective antibody production. In most series, a small proportion of patients present with opportunistic infections (OIs). METHODS The French DEFI study has enrolled patients with primary hypogammaglobulinemia and allows a detailed clinical and immunologic(More)
Primary immune thrombocytopenia (ITP) is a disorder caused by autoantibody-mediated platelet destruction and decreased platelet production. Rituximab, a B cell-depleting agent, has become the first-line treatment for ITP; however, patients with refractory disease usually require splenectomy. We identified antibody-secreting cells as the major splenic B cell(More)
Granulomatous disease (GD) will develop in a subset of patients with common variable immunodeficiency (CVID). Little is known about the efficacy of therapeutic agents used for treating this disorder. To evaluate the efficacy of immunosuppressive drugs with the help of a set of clinical, biological and radiological criteria. Clinical and laboratory features(More)
The DEFI study has collected clinical data and biological specimens from kindreds with CVID. Patients with demonstrated parental consanguinity (cCVID group) were compared to patients without parental consanguinity (ncCVID). A total of 24 of the 436 patients with CVID had consanguineous parents. Age at first symptoms and age at diagnosis were comparable in(More)
Abbreviations CVID Common variable immunodeficiency disorders SNP Single nucleotide polymorphism TNFA Tumor necrosis factor alpha BTNL2 Butyrophilin-like 2 ANXA11 Annexin A11 HC Healthy control DNA Deoxyribonucleic acid T Reg Regulatory T cell Common Variable Immunodeficiency Disorders (CVID) are a group of heterogeneous disorders defined by antibody(More)
BACKGROUND Good syndrome (GS) is a rare condition in which thymoma is associated with hypogammaglobulinemia. It is characterized by increased susceptibility to bacterial, viral, and fungal infections, as well as autoimmunity. Most patients have no circulating B cells. METHODS The French DEFicit Immunitaire de l'adulte cohort provides detailed clinical and(More)
Complement system is a part of innate immunity, its main function is to protect human from bacterial infection. As genetic disorders, complement deficiencies are often diagnosed in pediatric population. However, complement deficiencies can also be revealed in adults but have been poorly investigated. Herein, we describe a case series of infections revealing(More)
Reactive hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition related to a cytokine storm leading to multiorgan dysfunction. A better understanding of coagulation disorders, frequently reported in HLH patients, may improve outcomes. Critically ill HLH patients managed in a multidisciplinary national reference center were retrospectively(More)
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