Term
Defective tyrosine kinase
Results in no stimulation of B cells
Decreased production of all B cells and Immunoglobulins |
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Definition
| Bruton's agammaglobulinemia |
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Term
Eczema
Thrombocytopenia
Infections |
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Definition
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Term
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Definition
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Term
Absence of enzyme that creates NADPH
Results in hemolytic anemia
Induced by infection, trauma, fava beans, drugs |
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Definition
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Term
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Definition
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Term
Absence of HGPRT
which converts hypoxanthine to IMP and guanine to GMP |
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Definition
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Term
| Absence of dystrophin protein |
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Definition
| Duchenne muscular distrophy |
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Term
| Abnormal dystrophin protein |
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Definition
| Becker Muscular dystrophy |
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Term
| Mild form of Huler's syndrome (developmental delay, airway obsturction, gargoylism, corneal clouding) |
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Definition
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Term
Absence of clotting factor VIII/IX
Elevated PTT, normal bleeding time |
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Definition
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Term
Absence in regenerating reduced form of glutathione.
Results in hemolytic anemia |
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Definition
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Term
| Results in excess uric acid production and self mutilation |
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Definition
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Term
Causes deep bruises/purpura in muscles and joints.
Affects 2ndary hemostasis |
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Definition
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