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Although there is increased awareness of autoimmune and inflammatory complications in X-linkedagammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully explored.
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This is one of the few reported XLA cases experiencing severe PCP.
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Methods: The LTD model for CVID and XLA was derived using decision analysis methodology.
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These findings strongly support pursuit of B lineage-targeted LV gene therapy in human XLA.
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Methods: We present a case report of a family with two affected patients with XLA.
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Further studies are needed to improve diagnosis and management of GI conditions in XLA patients.
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Under-reporting in patient registries represents a major obstacle to calculating the true prevalence of CVID and XLA.
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Conclusions: Patients with XLA may require close monitoring with particular attention for GI manifestations including IBD and infectious enteritis.
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Conclusion: The potential demand for treating CVID and XLA exceeds the currently observed usage of Ig in these disorders.
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Nevertheless, some frequent affections persist despite treatment, and lead to handicapping and further to morbid clinical complications for XLA individuals.
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Since the mid 80's, substitutive therapy by intravenous gammaglobulin infusions has significantly improved XLA patient survival and quality of life.
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The most commonly reported mutations were missense, which have been associated with a less severe XLA phenotype in the literature.
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XLA patients lack mature B cells and immunoglobulin and experience recurrent bacterial infections only partially mitigated by life-long antibody replacement therapy.
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The most probable growth pattern in XLA appears to be delay in growth and puberty, as has already been described for other chronic diseases.
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Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully explored.