Abstract
Patients with germline mutations in PIK3CD, immunodeficiency, lymphoproliferation, and autoimmunity show a distinct pattern of abnormal B-cell maturation in the bone marrow.
Publication types
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Letter
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
MeSH terms
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Adolescent
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B-Lymphocytes / pathology*
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Bone Marrow Cells / pathology*
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Cell Differentiation / genetics
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Cell Differentiation / immunology
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Child
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Child, Preschool
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Class I Phosphatidylinositol 3-Kinases / genetics*
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Female
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Germ-Line Mutation
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Hematologic Diseases / genetics*
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Humans
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Male
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Precursor Cells, B-Lymphoid / pathology
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Young Adult
Substances
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Class I Phosphatidylinositol 3-Kinases
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PIK3CD protein, human