Other immunologic laboratory parameters and infection history
| Patient . | STAT3 . | Laboratory parameters . | Severe or recurrent infections . | |||
|---|---|---|---|---|---|---|
| Hypogam . | % DNTs . | FAS-apoptosis defect . | Other (ALC nadir/mm3) . | |||
| 1 | p.G421R | Yes | 3.3 | n/a | T lymphopenia (208) | No |
| 2 | p.T663I | No | 1.6-2.6 | No | (3100) | Viral pneumonia, molluscum, ocular herpes |
| 3 | p.R152W | Yes* | 2.7-3.5 | No | (1300) | Recurrent herpes zoster |
| 4 | p.V353F | Yes | 2.9 | No | B lymphopenia, poor memory B cells (710) | Onychomycosis, skin HPV, herpes zoster, dermatophytic infection |
| 5 | p.Q344H | Yes | n/a | n/a | Disseminated Pseudomonas, Candida, and Serratia, UTI | |
| 6 | p.E415K | Transient | n/a | n/a | Neonatal sepsis, recurrent URI, esophageal candidiasis | |
| 7 | p.T716M | No | <1 | n/a | T lymphopenia (610) | Lung infections |
| 8 | p.N420K | No | 1.5, 3.4 | No | T lymphopenia (913) | Recurrent respiratory infections |
| Family 1 | ||||||
| 9, Proband | p.A703T | No | 1.4 | Yes | (2500) | No |
| 10, Father | p.A703T | Yes | n/a | n/a | Bacterial and fungal soft tissue, osteomyelitis | |
| 11, Sibling | p.A703T | No | n/a | Yes | n/a | |
| Family 2 | ||||||
| 12, Proband | p.T716M | No | n/a | n/a | High B cells | No |
| 13, Father | p.T716M | n/a | n/a | n/a | No | |
| Patient . | STAT3 . | Laboratory parameters . | Severe or recurrent infections . | |||
|---|---|---|---|---|---|---|
| Hypogam . | % DNTs . | FAS-apoptosis defect . | Other (ALC nadir/mm3) . | |||
| 1 | p.G421R | Yes | 3.3 | n/a | T lymphopenia (208) | No |
| 2 | p.T663I | No | 1.6-2.6 | No | (3100) | Viral pneumonia, molluscum, ocular herpes |
| 3 | p.R152W | Yes* | 2.7-3.5 | No | (1300) | Recurrent herpes zoster |
| 4 | p.V353F | Yes | 2.9 | No | B lymphopenia, poor memory B cells (710) | Onychomycosis, skin HPV, herpes zoster, dermatophytic infection |
| 5 | p.Q344H | Yes | n/a | n/a | Disseminated Pseudomonas, Candida, and Serratia, UTI | |
| 6 | p.E415K | Transient | n/a | n/a | Neonatal sepsis, recurrent URI, esophageal candidiasis | |
| 7 | p.T716M | No | <1 | n/a | T lymphopenia (610) | Lung infections |
| 8 | p.N420K | No | 1.5, 3.4 | No | T lymphopenia (913) | Recurrent respiratory infections |
| Family 1 | ||||||
| 9, Proband | p.A703T | No | 1.4 | Yes | (2500) | No |
| 10, Father | p.A703T | Yes | n/a | n/a | Bacterial and fungal soft tissue, osteomyelitis | |
| 11, Sibling | p.A703T | No | n/a | Yes | n/a | |
| Family 2 | ||||||
| 12, Proband | p.T716M | No | n/a | n/a | High B cells | No |
| 13, Father | p.T716M | n/a | n/a | n/a | No | |
ALC, absolute lymphocyte count; HPV, human papillomavirus; Hypogam, hypogammaglobulinemia; n/a, not available; URI, upper respiratory infection; UTI, urinary tract infection.
Hypogammaglobulinemia after starting immunosuppression.