PIK3R1
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Ciliopathies and respiratory disease
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Corneal anomalies
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Monogenic inflammatory bowel disease
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Hyper IgM syndrome
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Cytopenias and inborn errors of immunity
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Congenital diarrhea
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Autoimmune lymphoproliferative disorders
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Agammaglobulinemia
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Autoimmune and autoinflammatory syndromes
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Infantile enterocolitis & monogenic inflammatory bowel disease
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Lipodystrophy and insulin resistance
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Monogenic diabetes
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Common variable immunodeficiencies
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Leukodystrophy- White Matter Disease Early Onset
