165 research outputs found
Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies
No full textPredominantly antibody deficiencies (PADs) encompass a heterogeneous group of disorders characterized by low immunoglobulin serum levels in the presence or absence of peripheral B cells. Clinical presentation of affected patients may include recurrent respiratory and gastrointestinal infections, invasive infections, autoimmune manifestations, allergic reactions, lymphoproliferation and increased susceptibility to malignant transformation. In the last decades, several genetic alterations affecting B cell development/maturation have been identified as causative of several forms of PADs, adding important information on the genetic background of PADs which in turn should lead to a better understanding of these disorders and precise clinical management of affected patients. This review aims to present a comprehensive overview of the known and potentially involved molecules in the etiology of PADs to elucidate the pathogenesis of these disorders and eventually offer a better prognosis for affected patients
Increased activation of PI3 kinase-δ predisposes to B cell lymphoma.
No full textInternational audienceActivated PI3-kinase-δ syndrome (APDS) is a rare primary combined immunodeficiency caused by either dominant gain-of-function mutations in the PIK3CD gene encoding the catalytic subunit p110δ of phosphoinositide 3-kinase-δ (PI3K-δ) (referred to as type 1 APDS) or dominant loss-of-function mutations in the PIK3R1 gene encoding the p85α, p55α and p50α regulatory subunits (type 2 APDS). In types 1 and 2 APDS, the PI3K-δ hyperactivity resulting from the gene mutations leads to similar clinical presentations - characterized by increased susceptibility to bacterial and viral infections, and (to a lesser extent) by auto-immune manifestations. A hallmark of this disease is the occurrence of lymphoproliferation, which may even be life-threatening and require repeated surgical treatment. A major complication of APDS is the occurrence of malignancy (especially B lymphomas), which greatly worsens the prognosis. Here, we review the different neoplastic conditions observed in patients with APDS, and discuss the uncontrolled PI3K-δ activity in B and T cells that leads to malignant transformation
Implication du système de réparation des mésappariements dans la maturation terminale des anticorps chez l'homme
No full textPARIS7-Bibliothèque centrale (751132105) / SudocSudocFranceF
Rôle de l'Activation Induced cytidine Deaminase (AID) dans la maturation terminale des lymphocytes B (apport de l'étude des syndromes d'Hyper-IgM)
No full textPARIS7-Bibliothèque centrale (751132105) / SudocSudocFranceF
- …
