Table 1.
Clinical phenotype of patients.
| Patient ID | Sex | Clinical diagnosis | Age at diagnosis | Recurrent infectious manifestations | Other conditions | Hematology | Malignancies |
|---|---|---|---|---|---|---|---|
| P1 | M | CVID | 37 | Sinuitis | Enteropathy | Trombocytopenia, splenomegaly | Diffuse large B-cell lymphoma |
| P2 | F | CVID | 41 | Sinuitis | Myelitis (transverse), chronic rhinosinuitis, collagen colitits atopia | Splenomegaly | |
| P3 | M | CVID | 35 | Pneumonia | Enteropathy, musculoskeletal symptoms | Trombocytopenia, splenomegaly | |
| P4 | M | CVID | 50 | Pneumonia, warts | Bronchiectasis | Splenomegaly | Esophagus cancer (squamous cell carcinoma) |
| P5 | F | CVID | 31 | Otitis, sinusitis, pneumonia, fungal infections, warts, abcess | Asthma, bronchiectasis, coeliac disease, lactose intolerance, atopia | Anemia, trombocytopenia, splenomegaly | Cervical cancer (adenocarcinoma) |
| P6 | M | CVID | 22 | Sinuitis, pneumonia | Bronchiectasis, coeliac disease, lactose intolerance, malabsorption, atopia | Trombocytopenia, splenomegaly | Diffuse large B-cell lymphoma |
| P7 | M | CVID | 33 | Sinusitis, pneumonia | Elevated liver enzymes, atopia | Trombocytopenia, splenomegaly | |
| P8 | F | TRAPS/gayuhypogammaglobulinaemia, atypical | 21 | Otitis, sinusitis warts | Malabsorption, lactose inteolerance | ||
| P9 | F | CVID | 45 | Sinusitis, pneumonia | Bronchiectasis, granulomatous disease, atopia | Trombocytopenia, splenomegaly | |
| P10 | F | CVID | 23 | Pneumonia, stomatitis | Elevated liver enzymes | Anemia, trombocytopenia, splenomegaly (Splenectomized) | |
| P11 | F | CVID | 22 | Pneumonia | Enteropathy, musculoskeletal symptoms, atopia | ||
| P12 | M | CVID | 59 | Sinusitis, pneumonia, perianal abcess | Enteropathy, gut lymphoma | Splenomegaly | Diffuse large B-cell lymphoma |
| P13 | M | CVID | 36 | Pneumonia | Enteropathy | Anemia, splenomegaly | |
| P14 | F | CVID | 11 | Sinusitis, pneumonia | Epilepsia, enteropathy | Trombocytopenia | |
| P15 | F | CVID | 27 | Sinuitis | Multiple sclerosis, enteropathy (mb. Crohn), autoimmune pancreatitis, atopia | ||
| P16 | F | CVID (?) | 48 | Sinusitis, pneumonia abscesses (mammae and skin) | Asthma, enteropathy, musculoskeletal symptoms, atopia | Lymphocytosis | Cervical dysplasia |
| P17 | F | CVID | 58 | Sinusitis, pneumonia | Bronchiectasis, neurinoma, enteropathy | Trombocytopenia, splenomegaly | Splenic marginalzone lymphoma |
| P18 | M | CVID | 34 | Pneumonia, pneumoccocal meningitis | Anemia, trombocytopenia, splenomegaly | ||
| P19 | F | CVID | 40 | Sinusitis | Anemia, trombocytopenia, splenomegaly | ||
| P20 | M | HIES (?) | 41 | Pneumonia | Pulmonal granulomas asthma, atopia |