Somatic mutations in IgM+IgD+CD27+ peripheral blood B cells of CD40- and AID-deficient patients
. | . | . | Sequences, no. . | . | Mutations . | . | . | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Patient characteristics . | Donor . | Age, y . | Total . | Mutated . | Range . | No. . | Frequency per 100 bp . | |||
| CD40-deficient | 40.1 | 11 | 22 | 21 | 0-29 | 243 | 3.8 | |||
| AID-deficient | AID.1* | 41 | 10 | 0 | 0 | 0 | 0 | |||
| AID-deficient | AID.2* | 25 | 11 | 1 | 0-1 | 1 | 0.02 | |||
. | . | . | Sequences, no. . | . | Mutations . | . | . | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Patient characteristics . | Donor . | Age, y . | Total . | Mutated . | Range . | No. . | Frequency per 100 bp . | |||
| CD40-deficient | 40.1 | 11 | 22 | 21 | 0-29 | 243 | 3.8 | |||
| AID-deficient | AID.1* | 41 | 10 | 0 | 0 | 0 | 0 | |||
| AID-deficient | AID.2* | 25 | 11 | 1 | 0-1 | 1 | 0.02 | |||
Rearranged intronic JH4-JH5 sequences were amplified and sequenced for these 2 patients, as previously.22 The sequences obtained were compared over 334 bp with the germline sequences, from His 102 in the JH4 gene to 298 bp in the JH4-JH5 intron