Table 1.
Clinical and genetic characteristics of patients with XHIGM with PAP with the CD40LG mutation
| Patient no. | Present patient | Patient 2(6) | Patient 3(7) | Patient 4(8) | |
|---|---|---|---|---|---|
| Age of onset (months) | 5 | 5 | 12 | 9 | |
| Age at diagnosis (months) | 7 | 5 | 60 | 36 | |
| Delay in diagnosis (months) | 2 | 0 | 48 | 25 | |
| Predominant infections | Pneumonia | Pneumonia | Pneumonia/diarrhea | Pneumonia | |
| Organisms isolated | Fungi | No | Klebsiella pneumoniae | Pneumocystis jirovecii | |
| Other manifestations | NA | No | Recurrent anemia | No | |
| IgG (mg/dl) | 81 (800–1600) | < 80 (139–655) | 308 (490-1 610) | 40 (100–560) | |
| IgA (mg/dl) | < 7 (70–330) | 8 (4–62) | 65 (40–200) | 150 (360–920) | |
| IgM (mg/dl) | 57 (50–220) | 108 (17–69) | 314 (50–200) | 480 (400–1280) | |
| Neutropenia | Yes | NA | No | Yes | |
| Chest CT | Ground-glass density images in both lungs | Diffuse ground glass opacities, reticular interstitial thickening, and consolidation | Ground-glass density images in both lungs | Ground-glass density images in both lungs | |
| Pathology | BAL material PAS (+) | BAL material PAS (+) | Lung biopsy revealed PAS (+) | BAL material PAS (+) | |
| Mutations/domains | c.516T > A, p.Tyr172Ter/TNFH | c.608G > C, p.Arg203Thr/TNFH | IVS3-1 G > A, E4 skip (del 347–409)/TNFH | c.511 dup A, p. Ile171Asn∗30/TNFH | |
| Treatment given and outcomes | Recovery on WLL, IVIg, cotrimoxazole, and HSCT | Improved on steroids, IVIg and WLL | Improved on IVIg, cotrimoxazole, | Improved on WLL, methylprednisolone, IVIg | |
| Follow-up (months) | 42 | 12 | 96 | 36 | |
Abbreviations: BAL, bronchoalveolar lavage; HSCT, hematopoietic stem cell transplantation; IVIg, intravenous immunoglobulin; NA, not available; PAS, periodic acid-Schiff; TNFH, tumor necrosis factor homology domain; WLL, whole-lung lavage