This is one of the few reported XLA cases experiencing severe PCP.

Methods: The LTD model for CVID and XLA was derived using decision analysis methodology.

These findings strongly support pursuit of B lineage-targeted LV gene therapy in human XLA.

Methods: We present a case report of a family with two affected patients with XLA.

Further studies are needed to improve diagnosis and management of GI conditions in XLA patients.

Under-reporting in patient registries represents a major obstacle to calculating the true prevalence of CVID and XLA.

Conclusions: Patients with XLA may require close monitoring with particular attention for GI manifestations including IBD and infectious enteritis.

Conclusion: The potential demand for treating CVID and XLA exceeds the currently observed usage of Ig in these disorders.

Nevertheless, some frequent affections persist despite treatment, and lead to handicapping and further to morbid clinical complications for XLA individuals.

Since the mid 80's, substitutive therapy by intravenous gammaglobulin infusions has significantly improved XLA patient survival and quality of life.

The most commonly reported mutations were missense, which have been associated with a less severe XLA phenotype in the literature.

XLA patients lack mature B cells and immunoglobulin and experience recurrent bacterial infections only partially mitigated by life-long antibody replacement therapy.

The most probable growth pattern in XLA appears to be delay in growth and puberty, as has already been described for other chronic diseases.

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.