Table 1. Immunological data of the patients P1.1 and P1.2
Age‐matched normal valuesP1.1 (11 years/16 years)P1.2 (10 years)
Leukocytes (cells mm−3)4,400–15,500/4,5006,600
Neutrophils (cells mm−3)1,800–8,000/2,7605,214
Monocytes (cells mm−3)200–1,000/230190
Lymphocytes (cells mm−3)1,900–3,7001,200/1,400700
T cells
CD3+ (cells mm−3)1,200–2,600 864/1,036 602
CD4+ (cells mm−3)650–1,500 300/462 238
CD8+ (cells mm−3)370–1,100336/560322
CD4/CD8 ratio0.9–2.60.9/0.80.7
TCRγ/δ (%)0.2–14/1.8NA
CD31+CD45RA+/CD4+ (recent naïve thymic emigrant) (%)43–55 /9 28
CD45RO+/CD4+ (memory) (%)13/30 /73 64
CCR7+CD45RA+/CD8+ (naïve) (%)52/68 /12 NA
CCR7+CD45RA/CD8+ (central memory) (%)2–4 /3 NA
CCR7CD27CD45RA/CD8+ (effector memory) (%)11/20 /35 NA
CCR7+CD27CD45RA+/CD8+ (exhausted effector memory EMRA) (%)1–18 /50 NA
Vα7+CD161+/CD3+ (MAIT) (%)1–8 /0.078 NA
Vα24+Vβ11+CD161+/CD3+ (iNKT) (%)> 0.02 /0.001 NA
T‐cell proliferation (cpm 10−3)
PHA (6.25 mg ml−1)> 50 /29 2.8
OKT3 (50 ng ml−1)> 30 /3.2 NA
Tetanus toxoid > 10NA 1.7
NK cells
CD16+CD56+ (cells mm−3)100–480108/112 49
CD16+CD56+ (%)4–179/87
B cells
CD19+ (cells mm−3)270–860 192/182 56
CD19+ (%)13–2716/13 8
CD21+CD27+/CD19+ (memory) (%)> 10/2325
IgD+IgM+/CD19+CD21+CD27+ (marginal zone) (%)31–51/1.5NA
IgDIgM/CD19+ CD21+CD27+ (switched) (%)21–49/19NA
Immunoglobulin levels (g l−1)
IgG6.6–12.814.511.3
IgM0.5–2.11.40.7
IgA0.7–3.40.61.72
  • Different immunological parameters of P1.1 and P1.2 were tested from blood and PBMCs: numbers of blood cell populations, different T‐cell subsets, B‐cell subsets, and natural killer cells from PBMCs (tested by flow cytometry), T‐cell proliferation in response to different stimuli (evaluated by incorporation of 3H thymidine) and serum (immunoglobulin subclasses). Values in bold correspond to values below the age‐matched normal values. MAIT, mucosal invariant cells.