Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

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neutropenia associated with x-linked agammaglobulinemia

x-linked agammaglobulinemia (xla) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced b lymphocytes number. in order to determine the association of neutropenia among iranian patients with xla, hospital records of 30 patients with confirmed xla in children medical center hospital, were reviewed. eight ou...

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Clinical 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...

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Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.

BACKGROUND X linked hyper-IgM (XHIM) is a primary immunodeficiency caused by mutations in the tumour necrosis factor superfamily 5 gene, TNFSF5, also known as the CD40 ligand (CD40L) gene. Patients often present with recurrent infections, and confirmation of a diagnosis of XHIM enables appropriate therapeutic interventions, including replacement immunoglobulin, antibiotics, and bone marrow tran...

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B cells in patients with X-linked agammaglobulinemia.

X-linked agammaglobulinemia (XLA) has been described as a disorder in which pre-B cells fail to differentiate into B cells. However, a small number of B cells have been seen occasionally in patients with this disorder. Because the phenotype of these cells might be helpful in defining the site of the defect in XLA, immunofluorescent staining techniques were used to characterize the B cells that ...

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[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...

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ژورنال

عنوان ژورنال: Central European Journal of Immunology

سال: 2013

ISSN: 1426-3912

DOI: 10.5114/ceji.2013.37748