Cellular immune phenotype and autoantibodies of two patients with partial trisomy 19 (19p13.3)
| (Age-specific institutional normal ranges)* | Patient 1see footnotes for age | Patient 2† |
|---|---|---|
| CD3 T cells/µL | 3780 (900–4500)‡ | 1212 (1800–3000) |
| CD3CD4 T cells/µL | 1850 (500–2400)‡ | 730 (1000–1800) |
| CD3CD8 T cells/µL | 1430 (300–1600)‡ | 198 (800–1500) |
| CD4CD45RA+/µL; % of CD3CD4: | 610; 30%§ | 628; 86% |
| TREC copies/100.000 CD3CD45 | 11.400 (high)§ | 99.700 (high) |
| γ-δ TCR CD3 /µL; % of CD3 | 90; 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 proliferation | Normal‡ | |
| Induced by PHA/ConA/CD3 Ab/SEA/SEB/PMA | reduced§ (PHA, CD3 Ab, SEA) | All normal |
| iNKT cells % of CD3(Va24Vb11+TCR CD3CD56) | n.d | 1.19 (>0.02) |
| NK cells/µL | 290 (100–1000)¶ | 162 (200–600) |
| CD19+ B cells/µL | 2640 (200–2100)¶ | 770 (700–1300) |
| CD27IgD- B cells % of CD19;absolute /µL | 0.'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 /µL | 0.57% (>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/µL | 11 090(1800–7700)¶ | 7300 (1800–7700) |
| Monocytes /µL | 1580 (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 antibodies | Negative§ | 32.0 IU/mL (<10 IU/mL) |
| MPO-ANCA, Pr3-ANCA | ANCA 1:160 | Negative |
| p-ANCA, c-ANCA | pos.§ | 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 antibodies | n.d. | >1000 U/mL (0–60 U/mL) |
| TSH receptor antibodies | n.d. | >100 U/mL (0–15 U/L) |
| thyroglobulin antibodies | n.d. | negative |
| glutamate-decarboxylase-antibodies | n.d. | 70.7 U/L (0–9.5 U/L) |
| 21-hydroxylase autoantibodies | n.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.