Article
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.
The Journal of allergy and clinical immunology - 1 Aug 2022
Yang Linlin, Booth Claire, Speckmann Carsten, Seidel Markus G, Worth Austen J J, Kindle Gerhard, Lankester Arjan C, Grimbacher Bodo, Gennery Andrew R, Seppanen Mikko R J, Morris Emma C, Burns Siobhan O
Abstract excerpt
BACKGROUND: X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease caused by XIAP gene mutations. A broad range of phenotype, severity, and age at onset present challenges for patient management. OBJECTIVE: We sought to characterize the phenotype, treatment, and survival outcomes of XIAP deficiency and to assess parameters influencing prognosis. METHODS: Data published from...
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