Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India
نویسندگان
چکیده
منابع مشابه
[X-linked agammaglobulinemia: experience in a Portuguese hospital].
INTRODUCTION X-Linked agammaglobulinemia (XLA) is characterized by an arrest of B cell differentiation, leading to recurrent bacterial infections. Lifelong immunoglobulin replacement therapy (IRT) is indicated to prevent infections and their complications. MATERIAL AND METHODS A retrospective study of patients with XLA followed in a level three hospital was performed; data was collected retro...
متن کاملClinical profile and management of HbE-β thalassemia in children: Experience from a tertiary care center in North India
Background: Eβ Thalassemia is characterized by clinical heterogeneity ranging from Non-Transfusion Dependent Thalassemia (NTDT) to Transfusion Dependent Thalassemia (TDT) state, causing management challenges for the clinicians, especially in the pediatric population. Therefore, this study was conducted to give an overview of the clinical profile and management in a tertiary care center. Materi...
متن کاملDeficient Expression of Bruton's Tyrosine Kinase in Monocytes from X-Linked Agammaglobulinemia as Evaluated by a Flow Cytometric Analysis and its Clinical Application to Carrier Detection
Background: The B-cell defect in X-linked agammaglobulinemia (XLA) is caused by mutations in the gene for Bruton's tyrosine kinase (BTK). BTK mutations result in deficient expression of BTK protein in peripheral blood monocytes. Methods: Using the anti-BTK monoclonal antibody (48-2H), a flow cytometric analysis of intra cytoplasmic BTK protein expression in monocytes was performed to identify I...
متن کاملClinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship betwee...
متن کاملX-linked agammaglobulinemia and rheumatoid arthritis
The pathogenic role of B cells in rheumatoid arthritis (RA) has recently gained much interest by the marked clinical responses of anti-CD20 therapy in RA. We describe a patient with X-linked agammaglobulinemia (XLA) who presented with an erosive symmetrical polyarthritis with histological features of RA including formation of a destructive pannus. Furthermore, the patient also developed subcuta...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2021
ISSN: 1664-3224
DOI: 10.3389/fimmu.2020.612323