Table 1. Immunological findings among ERBB2IPmut individuals
Cell countsSerum IgAntibody titersLymphocyte subsetsSerum tryptase
CD4+CD8+CD20+
ALCANCAECIgGIgAIgMIgETetanusPneumococcusTotalMemoryaTotalMemoryaTotalMemoryb
cells/µLcells/µLcells/µLmg/dLmg/dLmg/dLIU/mlIU/ml>1.3 µg/mlcells/µl%cells/µl%cells/µl%ng/ml
Ref.1,320– 3,5701,780– 5,38040–540700– 1,60091–49934–3420–90>0.1516/23359– 1,56513–50178–8533–1659–3290.8–3.6<11.4
14-y M3,290– 4,550c1,430– 2,410520– 2,880368– 89816–5145–115333–8982.2121/231,6707.295224381.55.3
11-y F4,450– 7,720c1,410– 1,86090–680693–73768–8990–10210–980.3520/232,50691,5015.17943.44.2
43-y M2,060–3,0101,810–4,29080–310946–1,290137–19455–8220–2001.6213/231,457204615.53811.75.2

Abbreviations used: AEC, absolute eosinophil count; ALC, absolute lymphocyte count; ANC, absolute neutrophil count; F, female; M, male; Ref., reference range; y, year old.

  • a T cell memory was defined as CD45RO+.

  • b B cell memory was defined as CD27+.

  • c 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.