Clinical Features of Five Selected Patients Compared With Classic XHIM
| . | Classic Phenotype (n = 40) . | Mild Phenotype (family no.) . | ||||
|---|---|---|---|---|---|---|
| T254M (7) . | T254M (8) . | R11X (11) . | nt309 + 2t → a (18) . | nt367G → A (19) . | ||
| Age (yr) at onset | Mean 1.1 (range, 0.17-5)3-150 | 14 | 5 | 8 | 17 | 5 |
| PCP | 43% | − | − | − | − | − |
| Neutropenia | 68% | − | Intermittent | +3-151 | − | − |
| Cryptosporidium | 10% | − | − | − | − | − |
| Red blood cell aplasia due to B19 infection | 0% | + | − | + | + | − |
| Age (yr) when Ig therapy started | Mean 1.5 (range, 0.5-12) | 14 | Never | 123-152 | 18 | 5 |
| Response to Ig therapy | Good in 42%3-153 | Good | NA | Good | Good | Good |
| Immunostaining type | ≥3, 16/20 (80%)3-155 | 2 | 2 | 1 | 1 | 1 |
| . | Classic Phenotype (n = 40) . | Mild Phenotype (family no.) . | ||||
|---|---|---|---|---|---|---|
| T254M (7) . | T254M (8) . | R11X (11) . | nt309 + 2t → a (18) . | nt367G → A (19) . | ||
| Age (yr) at onset | Mean 1.1 (range, 0.17-5)3-150 | 14 | 5 | 8 | 17 | 5 |
| PCP | 43% | − | − | − | − | − |
| Neutropenia | 68% | − | Intermittent | +3-151 | − | − |
| Cryptosporidium | 10% | − | − | − | − | − |
| Red blood cell aplasia due to B19 infection | 0% | + | − | + | + | − |
| Age (yr) when Ig therapy started | Mean 1.5 (range, 0.5-12) | 14 | Never | 123-152 | 18 | 5 |
| Response to Ig therapy | Good in 42%3-153 | Good | NA | Good | Good | Good |
| Immunostaining type | ≥3, 16/20 (80%)3-155 | 2 | 2 | 1 | 1 | 1 |
Abbreviations: NA, not applicable; Ig, immunoglobulin.
Four patients were excluded (n = 36, see Table 3).
Only during parvovirus B19 infection.
IVIg is administered sporadically every 6 to 18 months to treat B19-induced anemia.
Two patients were excluded (n = 38, see Table 3).
16 of 20 unique genotypes showed an immunostaining type of 3-5; 4 unique genotypes had a type 1 or 2.