Laboratory abnormalities and treatment of two patients with partial trisomy 19 (19p13.3)
| Patient 1 | Patient 2 | |
|---|---|---|
| Endocrine | TSH: mildly increased (7.06 µU/mL (0.66–4.1 µU/mL)); thyroxine and trijodthyronine normal; parathormone: normal 25-hydroxy-vitamin D3: decreased; bone specific alkaline phospatase: 22.5 ng/mL (50–100 ng/mL) | Latent autoimmune thyroiditis with suspected inhibitory TSH-receptor autoantibodies; thyroxin normal and trijodthyronine borderline elevated; glutamate-decarboxylate-autoantibodies: 70.7 U/L (0–9.5 U/L) parathormone: normal 25-hydroxy-vitamin D3: normal HGH: reduced; IGF1, IGFBP3: normal |
| Immunology, main features (see tables 3 and 4 for complete lab) | Immunoglobulin levels were adequate for age, selective antibody deficiency against polysaccharide antigens, no alterations in T cell, B cell or NK cell counts in vitro T cell proliferation reduced; borderline low class-switched B memory cells. NK degranulation: low, CTL normal. Granulocytic oxidative burst assays demonstrated a moderate reduction, whereas monocytic respiratory burst was decreased. MBL reduction; CH50/AH50: normal | Borderline hypogammaglobulinaemia; IgG1, IgG3 subclass deficiency IgM deficiency vaccination antibodies (Diph., Tet., Pneumoc., Haemophilus inf.B, HBV): normal T cells: reduced total count, normal subsets and in vitro proliferation; decreased class-switched B memory cells. NK and CTL degranulation: NK reduced, CTL normal granulocyte/monocyte function (DHR): borderline reduced (94–80% of normal, respectively) MBL defect; CH50/AH50 normal |
| Other laboratory abnormalities | ANA and ANCA positive | ds-DNA and thyroid antibodies; α-thalassaemia minor (due to microdeletion 16p; NOT including the TSC2, PKD or RTS genes) |
| Other (phenotypical) features | Malnutrition due to dysphagia: PEG tube feeding since 6 years of age | Malnutrition due to feeding problems: PEG tube feeding since 20th month of age |
| Treatment | At 5 years: short term administration of SCIG followed by monthly IVIG therapy (0.4 g/kg); valproic acid; pamidronate (3-monthly) | IVIG from 20th month (4-weekly) until 23 months; Ig subcutaneous started at 23 months (160–200 mg/kg Ig subcutaneous weekly); levetiracetam |
AH50, complement alternate pathway; CH50, total hemolytic complement classical pathway; CTL, cytotoxic T lymphocytes; DHR, dihydrorhodamine 123; ds-DNA, double-strand DNA; HGH, human growth hormone; IGF1, insulin-like growth factor 1; IGFBP3, IGF binding protein 3; IVIG, intravenous immunoglobulin; MBL, mannan-binding lectin; NK, natural killer; PEG, percutaneous endoscopic gastrostomy; SCIG, subcutaneous immunoglobulin; TSH, thyroid stimulating hormone.