Table 4

Cellular immune phenotype and autoantibodies of two patients with partial trisomy 19 (19p13.3)

(Age-specific institutional normal ranges)*Patient 1see footnotes for agePatient 2
CD3 T cells/µL3780 (900–4500)‡1212 (1800–3000)
CD3CD4 T cells/µL1850 (500–2400)‡730 (1000–1800)
CD3CD8 T cells/µL1430 (300–1600)‡198 (800–1500)
CD4CD45RA+/µL; % of CD3CD4:610; 30%§628; 86%
TREC copies/100.000 CD3CD4511.400 (high)§99.700 (high)
γ-δ TCR CD3 /µL; % of CD390; 1.8%§7; 0.6
TCR Vβ repertoire (n=25)
complexity score (max 125) in CD4 and CD8 T cells, resp.; clonality
110 and 112§; few oligoclonal and monoclonal, three missing.118 and 118;
one oligoclonal and one missing
In vitro T cell proliferationNormal‡
Induced by PHA/ConA/CD3 Ab/SEA/SEB/PMAreduced§ (PHA, CD3 Ab, SEA)All normal
iNKT cells % of CD3(Va24Vb11+TCR CD3CD56)n.d1.19 (>0.02)
NK cells/µL290 (100–1000)¶162 (200–600)
CD19+ B cells/µL2640 (200–2100)¶770 (700–1300)
CD27IgD- B cells % of CD19;absolute /µL0.'35% (>2%)¶;
<1/µL (16–66/µL)¶
1% (>2%)§;
20/µL (16–66)4
0.85% (>2%);
7/µL (16–51/µL)
CD27+IgD+ B cells % of CD19+;absolute /µL0.57% (>2%)¶;
10/µL (23–87/µL)¶
2.3%; (>2%)§;
60/µL (23–87/µL)§
1.44% (>2%);
11/µL (35–120/µL)
NK cytotoxicity:
CTL cytotoxicity:
(in vitro stimulated CD107a degranulation)
6.49% (>5–10%)§
8.24% (>2.8–6.9%)§
2.68% (>5–10%)
4.44% (>2.8–6.9%)
Absolute neutrophil count/µL11 090(1800–7700)¶7300 (1800–7700)
Monocytes /µL1580 (400–1000)¶692 (400–1000)
Phagocyte function:
phagocytosis (cells Escherichia coli opsonised)
Granulocytes: normal**
granulocytes: normal§
monoytes: normal§
Escherichia coli FITC: 94.3%
(>95)
DHR123: 99% (>95%)
Oxidative burst
(cells stimulated with PMA, fMLP)
Granulocytes: fMLP-stimulated: reduced**
granulocytes: normal§
monocytes: fMLP-stimulated: abnormal§
Escherichia coli FITC: 79.2%
(>80)
DHR123: 81.9%
(>80)
Granulocyte function ‘time course’
method: Granulo FC Oxy Burst††: 
Up to 50% reduced in comparison with healthy control¶n.d.
Autoantibodies:
ANA/ENA screening 1:404/negative§negative/negative
Double-strand DNA antibodiesNegative§32.0 IU/mL (<10 IU/mL)
MPO-ANCA, Pr3-ANCAANCA 1:160Negative
p-ANCA, c-ANCApos.§Negative
Mitochondrial antibodies (AMAs, M2)n.d.Negative
Smooth muscle antibodies (SMAs)n.d.Negative
Liver autoantibodies screen (LKM1, LC1, SLA-LP, F-actin, gp210, sp100)n.d.Negative
thyroperoxidase antibodiesn.d.>1000 U/mL (0–60 U/mL)
TSH receptor antibodiesn.d.>100 U/mL (0–15 U/L)
thyroglobulin antibodiesn.d.negative
glutamate-decarboxylase-antibodiesn.d.70.7 U/L (0–9.5 U/L)
21-hydroxylase autoantibodiesn.d.1.3 U/mL (0.08–1.0 U/L)
  • *Normal ranges in round brackets; pathological results in bold letters.

  • †At repeated occasions between 20 months and 24 months of age.

  • ‡At 3 years.

  • §At 7 years of age.

  • ¶At 6 years.

  • **Between the age of 4 years and 5 years.

  • ††According to the manufacturer's instructions; invitrogen/LifeTechnologies Vienna, Austria.

  • AMA, anti-mitochondrial antibodies; CTL, cytotoxic T lymphocytes; ENA, extractable nuclear antigen autoantibodies; fMLP, N-formylmethionyl-leucyl-phenylalanine; IFNg, interferon gamma; NK, natural killer; PHA, phytohaemagglutinin; PMA, phorbol-myristate acetate; TREC, T cell receptor excision circle; TSH, thyroid stimulating hormone.