David Boutboul

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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)
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)
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)
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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