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Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura

Signal TransductionAutoimmune DiseaseImmune Thrombocytopenic PurpuraReceptor Tyrosine KinaseImmunodeficienciesHematologyImmunologyPathologyAutoimmunityNovel Hypomorphic MutationMedicineCell BiologyCell SignalingInborn Error Of ImmunityIncontinentia Pigmenti