2020
DOI: 10.1016/j.clim.2020.108573
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Wiskott-Aldrich Syndrome in four male siblings from a consanguineous family from Lebanon

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Cited by 7 publications
(7 citation statements)
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“…On the other hand, one GOF variant in C3 was incorrectly classified as LOF. [61][62][63][64][65][66][67][68][69][70][71][72][73][74][75][76] Based on these tests, we estimate the true positive rate of our prediction as about 90%.…”
Section: Database Of Gof and Lof Variantsmentioning
confidence: 99%
“…On the other hand, one GOF variant in C3 was incorrectly classified as LOF. [61][62][63][64][65][66][67][68][69][70][71][72][73][74][75][76] Based on these tests, we estimate the true positive rate of our prediction as about 90%.…”
Section: Database Of Gof and Lof Variantsmentioning
confidence: 99%
“…Patients with WAS are characterized by defective thymic output and an increased frequency of apoptosis, which may explain the common phenomenon of T-cell lymphopenia in WAS patients. In addition, mutations in the gene encoding WASp cause defects in filamentous actin (F-actin) branching, resulting in the inability of T cells to migrate to secondary lymphoid organs, form stable immune synapses, proliferate, and secrete cytokines ( 17 ). WASp-deficient NK cells are unable to rearrange their F-actin cytoskeleton, which is required for NK cell immunological synapse formation and NK cell cytotoxicity ( 18 ).…”
Section: Discussionmentioning
confidence: 99%
“…However, the expression of YAP/TAZ in the postnatal brain opens several questions about whether the YAP/TAZ-TEAD complex plays a role beyond maintaining NSC phenotypes, and whether in this context WIP/N-WASP affect the biological/physiological activity of YAP/TAZ, since only limited reports on WIP's contribution to neuronal development are available. A low number of babies and children suffering a severe immunodeficiency similar to Wiskott-Aldrich syndrome due to mutations in the WIPF1 gene have been identified (Lanzi et al, 2012;Mansour et al, 2020). Studies related to these patients focused on their immunological alterations and the corresponding therapies, but they did not address the potential neurological consequences derived from mutant WIP malfunction.…”
Section: Neuritogenesis and Nscs Wip-yap/taz And Actinmentioning
confidence: 99%