Table 1.
Clinical and immunological features of the patient and his nephew compared with other cases of XMEN disease reported in the literature
| Patient | Nephew | Other Reported Cases (n=7)(1–3) | ||||
|---|---|---|---|---|---|---|
| Clinical Phenotype | ||||||
| Age at presentation | 36 years | 13 years | 3–45 years | |||
| Age & cause of death | 58 years DLBCL, PML | _ | 23, 45 years (2/7) Post-HSCT for lymphoma | |||
| Presenting diagnosis | • Recurrent respiratory tract infections with bronchiectasis • Specific polysaccharide antibody deficiency |
• EBV-driven LPD | • Recurrent infections • Persistent EBV viremia • Lymphoma • Chronic active EBV (1/7) |
|||
| Lymphoproliferative disease (LPD) (Age; Treatment) | • EBV-driven B-cell LPD (52 years; RCHOP) • DLBCL (58 ears; RCHOP, RGCVP) |
•EBV-driven B-cell LPD (13 years; chemotherapy) • Recurrent B-cell LPD disease (14 years; brachytherapy) |
• B-cell LPD, Burkitt’s, Hodgkin’s, non-Hodgkin’s lymphoma • Age 7–45 years • 2/7 had 2 episodes of lymphoma • 2/2 died post HSCT • 3/7 (3–7 years old) with no LPD |
|||
| Recurrent infections | • EBV Viral load range: undetectable to 1.26×106 copies/ml • Sinopulmonary bacterial infections with bronchiectasis |
• EBV Viral load range: 9×103 to 1.11×105 copies/ml |
• EBV (7/7) • Other viral infections e.g. herpes simplex, recurrent VZV, molluscum, pneumonia (4/7) • Bacterial respiratory tract infections (6/7) |
|||
| Immunological Phenotype | ||||||
| Time Point | At Presentation | During Follow-up | At Presentation | During Follow-up | ||
|
Immunoglobulins g/L (normal range) |
IgG | 9 (6–16) | 4.7–14.9 (trough levels on replacement) | 4.62 (5.2–14.8) | 6.27 (6.4–17.3) | Dysgammaglobuinemia with variable serum immunoglobulins and vaccine responses |
| IgA | 1.21 (0.8–3) | <0.06–1.2 (0.8–3) | 0.33 (0.5–3.8) | 0.28 (0.9–4.9) | ||
| IgM | 1.26 (0.4–2.5) | <0.04–1.24 (0.4–2.5) | 0.44 (0.4–2) | 5.7 (0.3–3.4) | ||
| Comment | • Vaccine responses normal to protein-conjugates, absent to polysaccharide • Started on immunoglobulin replacement |
• Undetectable IgA and IgM during LPD only | • Immunoglobulins measured post-chemotherapy • Vaccine responses not measured |
• Values above represent immunoglobulins measured prior to IgG infusions for thrombocytopenia | ||
|
Lymphocyte Subpopulations x109/L (normal range) |
Total | 3.78 (1–2.8) | 0.51–2.01 (1–2.8) | 2.94 (1.3–3.6) | 2.49 (1.3–3.6) | - |
| CD3 | 2.27 (0.7–2.1) | 0.22–1.16 (0.7–2.1) | 1.55 (0.6–2.3) | 1.38 (0.6–2.3) | % low in 1/6, normal in 5/6 | |
| CD4 | 0.95 (0.3–1.4) | 0.09–1.26 (0.3–1.4) | 0.62 (0.3–1.6) | 0.53 (0.3–1.6) | • Absolute counts often above 0.3×109/L • % low in 4/6, normal in 1/6, high in1/6 |
|
| CD8 | 1.25 (0.2–0.9) | 0.13–1.10 (0.2–0.9) | 0.71 (0.15–0.79) | 0.71 (0.15–0.79) | % low in1/6, normal in 4/6, high in 1/6 | |
| CD19 | 0.98 (0.1–0.5) | <0.001–1.06 (0.1–0.5) | 0.64 (0.08–0.5) | 0.51 (0.08–0.5) | % low in1/6 on Rituximab, normal in 4/6, high in 1/6 | |
| NK | Not Done | 0.10–0.36 (0.09–0.6) | 0.24 (0.11–0.61) | 0.13 (0.11–0.61) | % low in1/6, normal in 5/6 | |
| Comment | - | • B-cells 0.01 in the context of LPD (before treatment) & undetectable after Rituximab | - | - | • Expressed at % of total lymphocytes • Only measured in 6/7 |
|
| CD4:CD8 Ratio | Inverted | Inverted | Inverted in 6/7 | |||