Table 1. Immunological findings among ERBB2IPmut individuals.
Cell counts | Serum Ig | Antibody titers | Lymphocyte subsets | Serum tryptase | |||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CD4+ | CD8+ | CD20+ | |||||||||||||||||||
ALC | ANC | AEC | IgG | IgA | IgM | IgE | Tetanus | Pneumococcus | Total | Memorya | Total | Memorya | Total | Memoryb | |||||||
cells/µL | cells/µL | cells/µL | mg/dL | mg/dL | mg/dL | IU/ml | IU/ml | >1.3 µg/ml | cells/µl | % | cells/µl | % | cells/µl | % | ng/ml | ||||||
Ref. | 1,320– 3,570 | 1,780– 5,380 | 40–540 | 700– 1,600 | 91–499 | 34–342 | 0–90 | >0.15 | 16/23 | 359– 1,565 | 13–50 | 178–853 | 3–16 | 59–329 | 0.8–3.6 | <11.4 | |||||
14-y M | 3,290– 4,550c | 1,430– 2,410 | 520– 2,880 | 368– 898 | 16–51 | 45–115 | 333–898 | 2.21 | 21/23 | 1,670 | 7.2 | 952 | 2 | 438 | 1.5 | 5.3 | |||||
11-y F | 4,450– 7,720c | 1,410– 1,860 | 90–680 | 693–737 | 68–89 | 90–102 | 10–98 | 0.35 | 20/23 | 2,506 | 9 | 1,501 | 5.1 | 794 | 3.4 | 4.2 | |||||
43-y M | 2,060–3,010 | 1,810–4,290 | 80–310 | 946–1,290 | 137–194 | 55–82 | 20–200 | 1.62 | 13/23 | 1,457 | 20 | 461 | 5.5 | 381 | 1.7 | 5.2 |
Abbreviations used: AEC, absolute eosinophil count; ALC, absolute lymphocyte count; ANC, absolute neutrophil count; F, female; M, male; Ref., reference range; y, year old.
T cell memory was defined as CD45RO+.
B cell memory was defined as CD27+.
Increased total lymphocyte counts and reduced memory populations relative to adult reference values are a result of the young age of these individuals and do not represent defective memory formation or other pathology.