LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Eitemau Tebyg

• A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
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• Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
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  Cyhoeddwyd: (2016)
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• Rituximab Associated Hypogammaglobulinemia in Autoimmune Disease
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  Cyhoeddwyd: (2021)
• Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1
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  Cyhoeddwyd: (2015)