Table 1.
Demographic Characteristics of Five Affected Individuals in This Study
| A-II-1 | A-II-3 | A-II-4 | B-II-1 | C-II-1 | |
|---|---|---|---|---|---|
| Consanguineous parents | no | no | no | no | no |
| Gestation (weeks) | 38 | 36 | 39 | 39 | 39 |
| Birth weight (g) | 2,896 | 2,852 | 2,290 | 2,140 | 3,410 |
| Gender | male | male | female | female | female |
| Age at HSCT | not done | 151 d | not done | 8 m | 11 m |
| Diagnosis of PAP | AU | BAL+AU | BAL+AU | BAL | BAL |
| Recurrent infection with hyperreactivity | unknown | unknown | yes | yes | yes |
| Hypogammaglobulinemia | unknown | unknown | yes | yes | yes |
| Leukocytosis with normal distribution | yes | yes | yes | yes | yes |
| Splenomegaly before treatment | yes | yes | yes | unclear | yes |
| Small and non-foamy AMs | yes | yes | yes | unclear | yes |
| Age at onset of respiratory dysfunction | 39 d | 39 d | 49 d | 2 m | 5 m |
| Respiration status at birth | well | well | well | well | well |
| Respiration status after BAL | not done | unchanged | unchanged | improved | unchanged |
| Respiration status after IVIG | unknown | unknown | improved | improved | improved |
| Outcome | dead/91 d | dead/163 d | dead/11 y | dead/3 y | alive/19 m |
| Cause of death | respiratory failure | respiratory failure | respiratory failure | renal failure | alive |
Abbreviations: AU, autopsy; BAL, bronchoalveolar lavage; HSCT, hematopoietic stem cell transplantation; d, day; m, month; y, year.