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Immunodeficiency with hyper-IgM type 2 (sequence analysis of AICDA gene)
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Immunodeficiency with hyper-IgM, type 3 (sequence analysis of CD40 gene)
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Immunodeficiency, common variable (sequence analysis of NFKB1 gene)
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Immunodeficiency, common variable (sequence analysis of NFKB2 gene)
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Immunodeficiency, common variable 1 (sequence analysis of ICOS gene)
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Immunodeficiency, common variable, 11 (sequence analysis of IL21 gene)
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Immunodeficiency, common variable, 2 (sequence analysis of TNFRSF13B/TACI gene)
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Immunodeficiency, common variable, 4 (sequence analysis of TNFRSF13C gene)
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Immunodeficiency, developmental delay, and hypohomocysteinemia (sequence analysis of NFE2L2 gene)
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Immunodeficiency, X-linked with hyper-IgM (deletion/duplication analysis of CD4OLG gene)
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Immunodeficiency, X-linked with hyper-IgM (sequence analysis of CD40LG gene)
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Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (sequence analysis of MAGT1 gene)
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Immunodysregulation, polyendocrinopathy and enteropathy, X-linked (sequence analysis of FOXP3 gene)
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Immunoglobulin A deficiency (sequence analysis of TNFRSF13B/TACI gene)
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Inborn errors of metabolism (WES based NGS panel of 833 genes, including CNV analysis)
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Increased risk for infection with Gram-positive bacteria (c.1282G>A SNP on IRAK4 gene)
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Infantile cerebellar-retinal degeneration | Optic atrophy 9 (sequence analysis of ACO2 gene)
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Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis)
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Infantile epileptic encephalopathy 13 (EIEE13) (sequence analysis of SCN8A gene)
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Infantile histiocytoid cardiomyopathy (sequence analysis of MTCYB gene)
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