Table 1.
Demographic and Clinical Data of the Chronic Granulomatous Disease Patients and Their Healthy Relatives
| Family | Individual | Mutation | Age | Age at 1st symptoms | CRP (mg/L) | Clinical history | Therapy |
|---|---|---|---|---|---|---|---|
| 1 | CGD (m) | CYBA | 16 | 9 months | 7.0 | Perianal abscess/Anal fissure, osteomyelitis, lymphadenitis cervical, colitis (Crohn-like) | Cotrimoxazol, itraconazol |
| 1 | Brother | None | 17 | n.a | <1.0 | No inf. | No med. |
| 1 | Cousin (m) | None | 20 | n.a | 1.1 | No inf. | No med. |
| 1 | Cousin (m) | None | 14 | n.a | <1.0 | No inf. | No med. |
| 1 | Father | None | Adult | n.a | <1.0 | No inf. | No med. |
| 1 | Mother | None | Adult | n.a | 10.8 | No inf. | No med. |
| 2 | CGD (f) | Unknown | 8 | 4 years | 1.9 | Nasal furuncolosis - Staphylococcus aureus, gengivoestomatitis/caries, oral candidiasis, palato enantema, aphthae | Cotrimoxazol, |
| 2 | CGD (m) | Unknown | 5 | 8 months | 1.2 | Urinary tract infection, gengivoestomatitis/caries, palato enantema, aphthae | Cotrimoxazol, itraconazol |
| 2 | Mother | None | Adult | n.a | <1.0 | No inf. | No med. |
| 2 | Father | None | Adult | n.a | 1.4 | No inf. | No med. |
| 3 | CGD (f) | NCF1 | 10 | 5 years | 1.5 | Oral ulcers; Burkolderia cepacia causing cervical lymph node and splenic abscesses; visceral Leishmaniasis leading to hepatosplenomegaly and pancytopenia | Cotrimoxazol, itraconazol s.c. IFN-γ (age 5–9) |
| 3 | Brother | None | 15 | n.a | <1.0 | No inf. | No med. |
| 3 | Mother | None | Adult | n.a | 1.4 | No inf. | No med. |
| 4 | CGD (m) | CYBB | 4 | 1 month | 14.4 | Pneumonia, cervical lymphadenitis | Cotrimoxazol, itraconazol |
| 4 | Sister | Carrier | 8 | n.a | <1.0 | No inf. | No med. |
| 4 | Mother | Carrier | Adult | n.a | 3.3 | No inf. | No med. |
| 4 | Father | None | Adult | n.a | <1.0 | No inf. | No med. |
| 4 | Cousin (m) | None | 8 | n.a | <1.0 | No inf. | No med. |
| 5 | CGD (m) | CYBB | 5 | 3 weeks | 2.7 | Perianal abscess, intra-abdominal infections, enlarged, lymph nodes, sepsis, pneumonia, lymphadenitis, granulomas in colon | Itraconazol, sulfatrimetoprim, ASA, penicillin, immunoglobulin infusions |
| 5 | Sister | Carrier | 7 | n.a | <1.0 | No inf. | No med. |
| 5 | Mother | Carrier | Adult | n.a | 3.3 | No inf. | No med. |
| 6 | CGD (m) | Unknown | 4 | 22.7 | Colitis | Prednisolon | |
| 6 | Brother | None | 17 | n.a | 1.1 | No inf. | No med. |
| 6 | Mother | None | Adult | n.a | 3.9 | No inf. | No med. |
n.a., not applicable; (m), male; (f), female; No inf., no infections of chronic inflammation; No med., no regular intake of medication that could interfere with the immune system.