Splice-Correction Strategies for Treatment of X-Linked Agammaglobulinemia
نویسندگان
چکیده
منابع مشابه
Splice-Correction Strategies for Treatment of X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK). Deficiency of BTK leads to a developmental block in B cell differentiation; hence, the patients essentially lack antibody-producing plasma cells and are susceptible to various infections. A substantial portion of the mutations in BTK results in splic...
متن کاملneutropenia 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...
متن کامل[Dermatomyositis-like syndrome in x-linked agammaglobulinemia].
Primary immunodeficiencies (PIDs) encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA) has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS). This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a...
متن کاملSplice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model.
X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton's tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development. Here, we assessed the potential of antisense, splice-correcting oligonucleotides (SCOs) targeting mutated BTK transcripts for treating XLA. Bot...
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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...
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ژورنال
عنوان ژورنال: Current Allergy and Asthma Reports
سال: 2015
ISSN: 1529-7322,1534-6315
DOI: 10.1007/s11882-014-0510-0