Clinical spectrum of X-linked hyper-IgM syndrome

Levy, Jacov; Espanol-Boren, Teresa; Thomas, Carolin; Fischer, Alain; Tovo, Pier-Angelo; Bordigoni, Pierre; Resnick, Igor B.; Fasth, Anders; Baer, Maija; Gómez, Lina Andrea; Sanders, E. A. M.; Tabone, Marie‐Dominique; Plantaz, Dominique; Etzioni, Amos; Monafò, V.; Abinun, Mario; Hammarström, Lennart; Abrahamsen, Tore G.; Jones, A; Finn, Adam; Klemola, Timo; DeVries, Esther; Sanal, Özden; Peitsch, Manuel C.; Notarangelo, Luigi D.

doi:10.1016/s0022-3476(97)70123-9

Cited by 605 publications

(541 citation statements)

References 40 publications

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“…These are most likely to appear in persons with ataxia telangiectasia, Wiskott Aldrich syndrome, severe combined immunode®ciency, or common variable immunode®ciency [24À27]. Non HodgkinÕs lymphomas have also been documented in subjects with X-linked lymphoproliferative disease (XLP) [39], cartilage hair hypoplasia [40], Chediak-Higashi syndrome [41], Hyper IgM syndrome [42], and, recently, autoimmune lymphoproliferative disease (ALPS/ Cannale Smith syndrome) [43].…”

Section: Discussionmentioning

confidence: 99%

Lymphomas of mucosal‐associated lymphoid tissue in common variable immunodeficiency

et al. 2002

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Common variable immunode®ciency (CVID) is a primary immunode®ciency disease characterized by low serum immunoglobulins IgG, IgA, and usually IgM. The central immune de®ciency is impaired secretion of immunoglobulins and lack of antibody production; however, T cell dysfunction and a variety of in¯ammatory complications suggest global immune dysregulation. A number of reports have documented the association of primary immunode®ciency diseases with the development of non-Hodgkin's lymphoma (NHL). In CVID, the risk has been estimated to lie between 1.4% and 7%. As for NHL arising in other immunode®ciency states, the lymphomas in CVID are extranodal and are usually B cell in type. Of 22 B cell lymphomas that have appeared over a period of 25 years in a cohort of subjects with CVID, ®ve lymphomas, appearing in more recently studied subjects, that arose in mucosal sites would be classi®ed as mucosaassociated lymphoid tissue (MALT) lymphomas. MALT lymphomas are low-grade B cell lymphomas that result from a proliferation of neoplastic marginal-zone related cells of lymphoid tissue and tend to occur in organs that have acquired lymphoid tissue due to long-term infectious or autoimmune stimulation. Lymphomas of this kind have not been described in patients with congenital immunode®ciency, although chronic mucosal antigen stimulation is an integral part of these immune de®ciency states. Am.

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Section: Discussionmentioning

confidence: 99%

Lymphomas of mucosal‐associated lymphoid tissue in common variable immunodeficiency

et al. 2002

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“…18 Affected patients suffer from recurrent infections including opportunistic infections, recurrent episodes of neutropenia and autoimmune disease, and have an increased likelihood of developing cancer. 19 Gene transfer of CD40 ligand may be an attractive therapeutic option to patients with X-HIM. However, gene transfer of CD40 ligand will require the maintenance of normal regulation of CD40 ligand gene expression.…”

Section: Introductionmentioning

confidence: 99%

Transfer of activation-dependent gene expression into T cell lines by recombinant adeno-associated virus

Zhang

Fuleihan

1999

Gene Ther

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We examined the ability of recombinant adeno-associated no detectable constitutive expression of luciferase and that virus (rAAV) to transfer regulated gene expression into T luciferase gene expression remained inducible for at least cell lines. An AAV-based vector containing the neomycin 180 days. Luciferase expression was activated by PMA resistance gene and expressing the firefly luciferase (luc) and ionomycin and by anti-CD3 antibodies and was gene under the regulatory control of the interleukin 2 proinhibited by cyclosporin A. Examination of G418-resistant moter (pAAV-luc) was generated and adenovirus-free clones showed that rAAV-luc had integrated into the host rAAV (rAAV-luc) was produced from this vector. Transfecchromosomes but that some of the clones lost some of tion of pAAV-luc into the human T cell line Jurkat resulted the transferred DNA or lost expression from the transferred in luciferase expression while infection of Jurkat T cells DNA. These results indicate that rAAV can transfer and with rAAV-luc resulted in significant luciferase expression integrate regulated gene expression into T cell lines but only after selection for neomycin-resistant cells. Long-term that the transferred genetic material may be lost or its growth of transduced Jurkat T cells showed that there was expression may be silenced over time.

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“…While the clinical manifestations of X-HIM vary, most patients present with recurrent sino-pulmonary infections in the first 2 years of life. Patients with X-HIM are at an increased risk of opportunistic infections and as many as 20-40% of patients may present with Pneumocystis carinii pneumonia (Levy et al, 1997). Recurrent oral ulcers and proctitis are common and are usually associated with neutropenia, autoimmune disorders and lymphomas at an early age.…”

Section: X-linked Hyper-igm Syndrome (X-him)mentioning

confidence: 99%

“…Even with intravenous immunoglobulins, the long-term survival rate in XHIM is poor. Actuarial survival curves show that less than 30% of the patients are alive at 25 years of age (Levy et al, 1997). The only cure for X-HIM is bone marrow transplantation (BMT).…”

Section: X-linked Hyper-igm Syndrome (X-him)mentioning

confidence: 99%