Table 1.
Clinical characteristics of subjects with NFKB1 mutations.
|
Family ID |
Subject ID |
Current age (years old) | Age at first manifestation | Age at first diagnosis of hypogamma-globulinemia | Infections | Autoimmune manifestations | Lymphoproliferation | Malignancy | Other |
|---|---|---|---|---|---|---|---|---|---|
| Fam A | S1 | 35 | 16 | 18 | Recur. bronchitis and sinusitis | Adult-onset Still's disease, AIHA | Lymphadenopathy | ||
| Fam B | S2 | 61 | 35 | 38 | Recur. bronchitis, sinutitis, CMV-colitis (during R-CHOP) | Splenomegaly, nodular lymphoid hyperplasia of the gastrointestinal tract, nodular regenerative hyperplasia of the liver | Non-Hodgkin lymphoma | Addison's disease, diabetes mellitus type 2 |
|
| S3 | 33 | n.a. | n.a. | Asthma | |||||
| S4 | 24 | n.a. | 18 | Asthma | |||||
| Fam C | S5 | 56 | 50 | 52 | Recur. bronchitis/ sinusitis | ||||
| S6 | 50 | 37 | 40 | Recur. gastrointestinal infections (S. enteritis), recur. warts, recur. bronchitis/ sinusitis | |||||
| Fam D | S7 | 61 | 42 | 53 | Recur. pneumonias, recur. bronchitis/ sinusitis, | ITP | Lymphadenopathy, splenomegaly | ||
| Generalized shingles | |||||||||
| Fam E | S8 | 45 | 41 | 42 | Pneumonia, otitis media, recur. bronchitis | ||||
| S9 | 42 | 37 | 39 | Recur. bronchitis, sinusitis. Pneumonia and sepsis through S. pnemoniae |
n.a., not available; AIHA, autoimmune hemolytic anemia; ITP, idiopathic thrombocytopenic purpura; recur, recurrent; CMV, cytomegalovirus; R-CHOP, rituximab, cyclophosphamide, hydroxydaunorubicin, oncovin, prednisolone.