An Antibody-Deficiency Syndrome Due to Mutations in the CD19 Gene

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dc.contributor.authorVan Zelm, Menno C.
dc.contributor.authorReisli, İsmail
dc.contributor.authorVan Der Burg, Mirjam
dc.contributor.authorCastano, Diana
dc.contributor.authorVan Noesel, Carel J. M.
dc.contributor.authorVan Tol, Maarten J. D.
dc.contributor.authorWoellner, Cristina
dc.contributor.authorGrimbacher, Bodo
dc.contributor.authorPatino, Pablo J.
dc.contributor.authorVan Dongen, Jasques J. M.
dc.contributor.authorFranco, Jose L.
dc.date.accessioned2020-03-26T17:03:01Z
dc.date.available2020-03-26T17:03:01Z
dc.date.issued2006
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractBACKGROUND: The CD19 protein forms a complex with CD21, CD81, and CD225 in the membrane of mature B cells. Together with the B-cell antigen receptor, this complex signals the B cell to decrease its threshold for activation by the antigen. METHODS: We evaluated four patients from two unrelated families who had increased susceptibility to infection, hypogammaglobulinemia, and normal numbers of mature B cells in blood. We found a mutation in the CD19 gene in all four patients. The CD19 gene in the patients and their first-degree relatives was sequenced, and flow-cytometric immunophenotyping of B cells, immunohistochemical staining of lymphoid tissues, and DNA and messenger RNA analysis were performed. B-cell responses on the triggering of the B-cell receptor were investigated by in vitro stimulation; the antibody response after vaccination with rabies vaccine was also studied. RESULTS: All four patients had homozygous mutations in the CD19 gene. Levels of CD19 were undetectable in one patient and substantially decreased in the other three. Levels of CD21 were decreased, whereas levels of CD81 and CD225 were normal, in all four patients. The composition of the precursor B-cell compartment in bone marrow and the total numbers of B cells in blood were normal. However, the numbers of CD27+ memory B cells and CD5+ B cells were decreased. Secondary follicles in lymphoid tissues were small to normal in size and had a normal cellular composition. The few B cells that showed molecular signs of switching from one immunoglobulin class to another contained V-H-C-alpha and V-H-C-gamma transcripts with somatic mutations. The response of the patients' B cells to in vitro stimulation through the B-cell receptor was impaired, and in all four patients, the antibody response to rabies vaccination was poor. CONCLUSIONS: Mutation of the CD19 gene causes a type of hypogammaglobulinemia in which the response of mature B cells to antigenic stimulation is defective.en_US
dc.identifier.citationVan Zelm, M. C., Reisli, İ., Van Der Burg, M., Castano, D., Van Noesel, C. J. M., Van Tol, M. J. D., Woellner, C., Grimbacher B., Patino, P. J., Van Dongen, J. J. M., Franco, J. L., (2006). An Antibody-Deficiency Syndrome Due to Mutations in the CD19 Gene. New England Journal of Medicine, 354(18), 1901-1912. Doi: 10.1056/NEJMoa051568
dc.identifier.doi10.1056/NEJMoa051568en_US
dc.identifier.endpage1912en_US
dc.identifier.issn0028-4793en_US
dc.identifier.issn1533-4406en_US
dc.identifier.issue18en_US
dc.identifier.pmid16672701en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1901en_US
dc.identifier.urihttps://dx.doi.org/10.1056/NEJMoa051568
dc.identifier.urihttps://hdl.handle.net/20.500.12395/20318
dc.identifier.volume354en_US
dc.identifier.wosWOS:000237239900006en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMassachusetts Medical Socen_US
dc.relation.ispartofNew England Journal of Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.titleAn Antibody-Deficiency Syndrome Due to Mutations in the CD19 Geneen_US
dc.typeArticleen_US

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