TABLE I.
Clinical and molecular features of the patients
| Patient no. | Age (y) | Sex | Mutation | Clinical history | Diagnosis |
|---|---|---|---|---|---|
| 1 | 10.0 | F | g.70A>G; g.70A>G | No infections | CHH, no infections |
| 2 | 12.0 | F | g.70A>G; g.70A>G | Parvovirus infection, juvenile arthritis | CHH + infections |
| 3 | 2.5 | F | g.70A>G; g.70A>G | Interstitial pneumonia | CHH + infections |
| 4 | 1.0 | M | g.70A>G; g.70A>G | Recurrent URTI | CHH + infections |
| 5 | 3.9 | F | g.70A>G; g.70A>G | No infections | CHH, no infections |
| 6 | 5.8 | M | g.70A>G; g.70A>G | No infections | CHH, no infections |
| 7 | 7.7 | M | g.70A>G; g.70A>G | No infections | CHH, no infections |
| 8 | 3.7 | M | g.70A>G; g.70A>G | No infections | CHH, no infections |
| 9 | 21.0 | F | g.70A>G; g.70A>G | Recurrent URTI | CHH + infections |
| 10 | 15.0 | F | g.70A>G; g.70A>G | Sepsis | CHH + infections |
| 11 | 6.7 | F | g.70A>G; g.70A>G | No infections | CHH, no infections |
| 12 | 5.0 | F | g.70A>G; g.70A>G | Pneumonia | CHH+ infections |
| 13 | 9.0 | F | g.70A>G; g.70A>G | No infections | CHH, no infections |
| 14 | 7.0 | F | g.70A>G; g.217C>T | Recurrent URTI, chronic diarrhea | CHH + CID |
| 15 | 5.0 | M | g.18G>C; g.118A>G | Recurrent URTI, molluscum | CHH + infections |
| 16 | 2.0 | F | g.70A>G; g.70A>G | Sepsis | CHH + infections |
| 17 | 11.7 | M | g.27G>A; g.27G>A | Aspergillus and CMV pneumonia, EBV-related lymphoproliferation | CHH + CID |
| 18 | 2.0 | M | g.61G>A; g.-23_8dup TACTCTGTGAAGCTGAG | Sepsis, recurrent pneumonia | CHH + CID |
CMV, Cytomegalovirus; F, female; M, male; URTI, upper respiratory tract infection.