Table 2.
The clinical, immunological and genetic phenotype of the CVID cohorts
| Phenotypes | CVID_IEL (n=5) |
CVID_N (n=3) |
CVID total (n=8) |
|---|---|---|---|
| Clinical | |||
| Infection only, n | 0 | 0 | 0%a |
| Complicationsb | 5 | 3 | 100% a |
| Enteropathy | 5 | 0 | 63% a |
| Splenomegaly | 2 | 2 | 50% a |
| Lymphoid hyperplasia | 1 | 2 | 38% a |
| Organ-specific autoimmunity | 2 | 0 | 25% a |
| Autoimmune cytopenia | 1 | 1 | 25% a |
| IgG replacement therapy | 5 | 3 | 100% a |
| Immunomodulatory treatment | 0 | 0 | 0% a |
| Immunological | |||
| Ig at diagnosis | |||
| Reduced IgA (< 0.7 g/L) | 5 | 3 | 100% a |
| Reduced IgM (< 0.4 g/L) | 4 | 3 | 88% a |
| IgG, g/Lc | 2.5 (1.2–3.9) | 1.7 (0.5–3.0) | 2.5 (0.5–3.9) |
| B cell sub-classesd | |||
| CD19+ cells of lymphocytes> 1% | 5 | 3 | 100% a |
| Switched memory B-cells ≤ 2% | 4 | 2 | 75% a |
| Transitional B cells <9 % | 3 | 3 | 75% a |
| CD21low B cells ≥ 10% | 3 | 3 | 75% a |
| Total B cells (× 106/L) c | 72 (31–306) | 349 (137–579) | 218 (31–579) |
| Total T cells (× 106/L) c | 824 (471–1404) | 1730 (1131–3483) | 1246 (471–3483) |
| CD4+ T cells (× 106/L) c | 496 (170–879) | 803 (647–1054) | 601 (170–1054) |
| CD8+ T cells (× 106/L) c | 426 (303–805) | 1008 (301–2429) | 430 (301–2429) |
| NK cells (× 106/L) c | 147 (28–362) | 129 (101–531) | 138 (28–531) |
| Genetics | |||
| Known monogenic PID mutation e | 1 | 0 | 13% a |
aPercentage of the total CVID Cohort (n=8) that have the phenotype in the first column
bNone of the patients had granulomas, lymphoid interstitial pneumonitis, nodular regenerative hyperplasia of the liver or lymphoma
cMedian (minimum-maximum)
dB cells are classified according to EURO classification [29]
eWhole exome sequencing and then gene panel (covering 598 genes, see methods)
CVID, Common variable immunodeficiency; CVID_IEL, Subclassification of duodenal biopsies from the CVID patient with increased intra epithelial lymphocytes; CVID_N, Subclassification of duodenal biopsies from the CVID patient with no increased intra epithelial lymphocytes (normal); Ig, Immunoglobulin; NK, natural killer cells; PID, primary immunodeficiency