Functional class switch recombination may occur ‘in vivo’ in Waldenström macroglobulinaemia

onychomadesis in a patient with immunoglobulin class switch recombination deficiency

immunoglobulin class switch recombination deficiencies (ig csr deficiencies) or hyper igm syndromes (higm) are a group of primary immunodeficiency diseases, characterized by defective cd40 signaling of b cells resulting into a csr and a somatic hypermutation. the affected patients are characterized with reduced serum levels of igg and iga, and normal or elevated level of igm, which lead to incr...

Guidelines on the management of Waldenström macroglobulinaemia.

Waldenström macroglobulinaemia (WM) is a distinct disorder characterised by a monoclonal immunoglobulin (Ig)M paraprotein and morphological evidence of lymphoplasmacytic lymphoma; the cells are IgM+, IgD+, CD19 and CD20 but usually CD5, CD10 and CD23. Therapy should currently be reserved for patients who are symptomatic or in whom there is haematological suppression or clear evidence of disease...

Interallelic Class Switch Recombination

Nibrin functions in Ig class-switch recombination.

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by predisposition to hematopoietic malignancy, cell-cycle checkpoint defects, and ionizing radiation sensitivity. NBS is caused by a hypomorphic mutation of the NBS1 gene, encoding nibrin, which forms a protein complex with Mre11 and Rad50, both involved in DNA repair. Nibrin localizes to chromosomal sites of ...

Immunoglobulin class-switch recombination deficiencies

Immunoglobulin class-switch recombination deficiencies (Ig-CSR-Ds) are rare primary immunodeficiencies characterized by defective switched isotype (IgG/IgA/IgE) production. Depending on the molecular defect in question, the Ig-CSR-D may be combined with an impairment in somatic hypermutation (SHM). Some of the mechanisms underlying Ig-CSR and SHM have been described by studying natural mutants ...