| Patient # |
Gene
Mutation |
Age at presentation (years) |
Presenting symptom |
Age at Diagnosis of CGD (years) |
| 1 |
CYBB
c.1546T>C |
0.4 |
Liver abscess, Staphylococcus aureus cervical lymphadenitis |
0.5 |
| 2 |
CYBB
c.906_909delTCAC |
0.2 |
Staphylococcus aureus, Cervical lymphadenitis and abscess |
0.4 |
| 3 |
CYBB
c.868C>T |
1.4 |
Liver abscesses + colitis (No pathogen isolated) |
1.5 |
| 4 |
NCF1 (heterozygote)
c.75-76delGT |
7 |
Skin infection with Serratia marcescens |
9.7 |
| 5 |
NCF2
c.1099C>T |
5 |
Pneumonia (unknown pathogen) |
31.4 |
| 6 |
X-linked inheritance# |
0 |
NA* |
NA# |
| 7 |
X-linked inheritance# |
0 |
NA* |
NA# |
| 8 |
CYBB
c.883_87dupGTGGT |
3.3 |
Axillary lymphadenitis due to Aspergillus |
3.4 |
| 9 |
CYBB
c.252G>A |
3.2 |
Persistent vomiting |
3.6 |
| 10 |
CYBB
c.121T>G |
6.9 |
Pulmonary aspergillus, colitis |
7 |
| 11 |
X-linked inheritance# |
18 |
Pulmonary aspergillus |
18.1 |
| *NA: not applicable as diagnosed at birth due to family history of CGD; #: Suggested because additional family member was diagnosed with X-linked CGD |
