Table 3

Humoral immune phenotype of two patients with partial trisomy 19 (19p13.3)

(Age-specific institutional normal ranges)*patient 1 see footnotes for agepatient 2†
Before substitution; (mg/dL)
 IgG1362 (473–1385)‡386 (442–918)
 IgG1952 (370–1000) ‡270 (290–820)
 IgG2231 (72–340)‡100 (38–240)
 IgG374 (13–133)‡6 (15–107)
 IgG4d106 (0–158)‡3 (0–62)
IgA (mg/dL)70 (39–147)‡61 (2–98)
IgM (mg/dL)131 (20–92)‡0.07 (12–104)
IgE (IU/mL)4.6 (0–100]‡5.7
IgD (mg/L)6.43‡6.4
Antitetanus toxoid IgG (IU/mL)6.94‡4.42
Antidiphtheria toxoid IgG (IU/mL)0.43‡1.35
Antipneumococci capsule polysaccharide
Antibodies (after threefold 13-valent conjugated vaccine)titers‡: IgG: 1:94; IgM:1:300IgG concentration: 166.88 mg/L
Antihaemophilus influenzae b IgG (mg/L)9‡3.23
Antimeningococci C antibodies (after 1-× conjugated MenC vaccine):IgG: 1:105n.d.
IgM‡: 1:28
Anti hepatitis B IgGn.d.>1000 mIU/mL
Anti EBV-IgGn.d.neg.
Anti CMV-IgGn.d.neg.
Anti varicella-IgGn.d.48 mIU/mL
CH50/AH50 (U/mL)>300‡n.d.
Mannan-binding lectin (MBL) (ng/mL)273 (>300)‡17.8 (>300)
MBL2 genotype: analysis of five genomic polymorphisms: codon 52 (CGT>TGT); codon 54 (GGC> GAC); codon 57 (GGA>GAA); promoter −550 (G>C); promoter −221 (G>C)LXA/LYB; (= codon 54 homozygous and promoter −550 heterozygous polymorphism)n.d.
  • *Normal ranges in square brackets; pathological results in bold letters.

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

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

  • §At 3 years.

  • ¶At 6 years.

  • **At 7 years of age.

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

  • MBL, mannan-binding lectin.