Table 2 Clinical IEI-manifestations of agammaglobulinemia patients harboring candidate disease-causing variants in BTK gene
From: Genetic screening in a Brazilian cohort with inborn errors of immunity
Patient number | Reccurent infections | Hematological alteration | Variant in BTK gene | BTK domain | ||||
|---|---|---|---|---|---|---|---|---|
Blood cell count (%) | Immunoglobulin level | |||||||
IgA (mg/dL) | IgG (mg/dL) | IgM (mg/dL) | IgE (UI/L) | |||||
Patient 1 | Sinusite, Pneumonia, and Pseudomonas sp. infection | CD19, CD20 undetectable | undetectable | 579 | undetectable | undetectable | NM_000061.3:c.1111_1112dup (p.Arg372ProfsTer32) | SH2 |
RV: 553–971 | ||||||||
Patient 2 | Pneumonia, Otite, Sinusite | CD19 = 0.7 | 8 | 65 | 32 | undetectable | NM_000061.3:c.167T > A (p.Ile56Lys) | PH |
RV: 6–23 | RV: 4–7 | RV: 338–406 | RV: 29–32 | |||||
Patient 3 | Artrite, Pneumonias, Sinsuites | CD19 less than 1 | 17.3 | 44.5 | 8.9 | 0.5 | NM_000061.3:c.993dup (p.Arg332ThrfsTer17) | SH2 |
RV: 6–23 | 9 | RV: 739–793 | RV: 81–92 | RV: 0 -0.1 | ||||
Patient 4 | Otite, Sinusite, Pneumonia, Artrite | CD19 and CD20 = 0.2 | undetectable |  < 30 | 57 | undetectable | NM_000061.3:c.336C > A (p.Tyr112Ter) | PH |
RV: 13–27; RV: 7.1–23.8 | RV: 616–799 | RV: 64–87 | ||||||
Patient 5 | Chronic arthritis, pneumonia, and bronchiectasis | CD19 = 0.4; CD20 = 0.2 | undetectable | 12 | undetectable | undetectable | NM_000061.3:c.1735G > T (p.Asp579Tyr) | TK |
RV: 13–27; RV: 7.7–24.3 | RV: 338–406 | |||||||