Definitive diagnosis* |
Male patient with less than 2% CD19+ B cells and at least one of the following: |
1. Mutation in Btk. |
2. Absent Btk mRNA on Northern blot analysis of neutrophils or monocytes. |
3. Absent Btk protein in monocytes or platelets. |
4. Maternal cousins, uncles, or nephews with less than 2% CD19+ B cells. |
Probable diagnosis* |
Male patient with less than 2% CD19+ B cells in whom all of the following are positive: |
1. Onset of recurrent bacterial infections in the first 5 years of life. |
2. Serum IgG, IgM, and IgA more than 2 SD below normal for age. |
3. Absent isohemagglutinins and/or poor response to vaccines. |
4. Other causes of hypogammaglobulinemia have been excluded. |
Possible diagnosis* |
Male patient with less than 2% CD19+ B cells in whom other causes of hypogammaglobulinemia have been excluded and at least one of the following is positive: |
1. Onset of recurrent bacterial infections in the first 5 years of life. |
2. Serum IgG, IgM, and IgA more than 2 SD below normal for age. |
3. Absent isohemagglutinins. |
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