Table 1

Clinical characteristics of patients

Case 1 2 3 4 5 6 7
Date of birth15.12.8826.06.9116.02.9207.10.9224.06.9424.08.9630.07.93
Age of diagnosis18 months30 monthsBirth10 months5 months26 monthsBirth
Age of GI symptoms10 weeks, then at 3 years 10 months18 months, then again at   26 months3 years 7 months5 years5 months1 month13 months
Subunits of NADPH oxidasegp91phox gp91phox gp91phox p67phox gp91phox gp91phox p47phox
Molecular defectNew mutation. Complete deletion of CYBBSingle amino acid   substitution in CYBB gene (C400T)12 kilobase deletion in CYBB geneUndetermined defect of NCF2Single amino acid   substitution in CYBB gene (C880T)Single amino acid   substitution in CYBB gene (T436C)Undetermined defect of NCF1
NBT test0–0%0–0%0%1–2%0%0–0%0–0%
GI symptomsFTT. Runny, sometimes   bloody diarrhoea. Incontinence. Perianal abscessDiarrhoea, oedema with   hypoproteinemia. FTT, constipationMouths ulcers. Abdominal   distension, pain, constipation. Anal fissure. AscitisBloody diarrhoea with crampsFTT, watery diarrhoea. HepatosplenomegalyFTT, vomiting, mouth ulcers. HepatosplenomegalyFTT, recurrent bloody diarrhoea. Skin tags
AnaemiaYes, on iron p.o.Yes, on iron p.o.Yes, on iron p.o.Yes, on iron p.o.Yes, transfusedYesYes, on iron p.o., transfused
ESR21 mm/h13 mm/h40 mm/h21 mm/h100 mm/h60 mm/hNot done
FBCHb: 72 g/lHb: 73 g/lHb: 88 g/lHb: 75 g/lHb: 114 g/lHb: 71 g/lHb: 60 g/l
MCV: 63.9 flMCV: 68.6 flMCV: 64.3 flMCV: 78.5 flMCV: 75.3 flMCV: 67.3 flMCV: 70.9 fl
Plt: 438'000Plt: 897'000Plt: 678'000Plt: 457'000Plt: 473'000Plt: 748'000Plt: 601'000
Height and weightHt: 3CHt: 25CHt: 10CHt: 50–75CHt: 25–50CHt: 3CHt: <3C
Wt: 25–50CWt: 50CWt: 25CWt: 25–50CWt: <3CWt: 25–50CWt: 3C
TreatmentSulphasalazine, Septrin, itraconazoleSulphasalazine,   prednisolone, itraconazole, SeptrinSulphasalazine, itraconazole, SeptrinAzathioprine,   prednisolone, sulphasalazine, ciprofloxacin, metronidazole, itraconazole, SeptrinMesalazine, itraconazole,   Septrin, isoniazid, rifampicin, overnight feedsVancomycine,   ciprofloxacin, metronidazole, Septrin, itraconazoleMetronidazole,   ciprofloxacin, cyclosporine A, Septrin, itraconazole
  • FTT, failure to thrive; ESR, erythrocyte sedimentation rate; FBC, full blood count; MCV, mean cell volume; Plt, platelets; C, centile.