Table 1

Clinical characteristics of patients

Case	1	2	3	4	5	6	7
Date of birth	15.12.88	26.06.91	16.02.92	07.10.92	24.06.94	24.08.96	30.07.93
Age of diagnosis	18 months	30 months	Birth	10 months	5 months	26 months	Birth
Age of GI symptoms	10 weeks, then at 3 years 10 months	18 months, then again at 26 months	3 years 7 months	5 years	5 months	1 month	13 months
Subunits of NADPH oxidase	gp91^phox	gp91^phox	gp91^phox	p67^phox	gp91^phox	gp91^phox	p47^phox
Molecular defect	New mutation. Complete deletion of CYBB	Single amino acid substitution in CYBB gene (C400T)	12 kilobase deletion in CYBB gene	Undetermined defect of NCF2	Single amino acid substitution in CYBB gene (C880T)	Single amino acid substitution in CYBB gene (T436C)	Undetermined defect of NCF1
NBT test	0–0%	0–0%	0%	1–2%	0%	0–0%	0–0%
GI symptoms	FTT. Runny, sometimes bloody diarrhoea. Incontinence. Perianal abscess	Diarrhoea, oedema with hypoproteinemia. FTT, constipation	Mouths ulcers. Abdominal distension, pain, constipation. Anal fissure. Ascitis	Bloody diarrhoea with cramps	FTT, watery diarrhoea. Hepatosplenomegaly	FTT, vomiting, mouth ulcers. Hepatosplenomegaly	FTT, recurrent bloody diarrhoea. Skin tags
Anaemia	Yes, on iron p.o.	Yes, on iron p.o.	Yes, on iron p.o.	Yes, on iron p.o.	Yes, transfused	Yes	Yes, on iron p.o., transfused
ESR	21 mm/h	13 mm/h	40 mm/h	21 mm/h	100 mm/h	60 mm/h	Not done
FBC		Hb: 72 g/l	Hb: 73 g/l	Hb: 88 g/l	Hb: 75 g/l	Hb: 114 g/l	Hb: 71 g/l	Hb: 60 g/l
		MCV: 63.9 fl	MCV: 68.6 fl	MCV: 64.3 fl	MCV: 78.5 fl	MCV: 75.3 fl	MCV: 67.3 fl	MCV: 70.9 fl
		Plt: 438'000	Plt: 897'000	Plt: 678'000	Plt: 457'000	Plt: 473'000	Plt: 748'000	Plt: 601'000
Height and weight		Ht: 3C	Ht: 25C	Ht: 10C	Ht: 50–75C	Ht: 25–50C	Ht: 3C	Ht: <3C
Height and weight		Wt: 25–50C	Wt: 50C	Wt: 25C	Wt: 25–50C	Wt: <3C	Wt: 25–50C	Wt: 3C
Treatment	Sulphasalazine, Septrin, itraconazole	Sulphasalazine, prednisolone, itraconazole, Septrin	Sulphasalazine, itraconazole, Septrin	Azathioprine, prednisolone, sulphasalazine, ciprofloxacin, metronidazole, itraconazole, Septrin	Mesalazine, itraconazole, Septrin, isoniazid, rifampicin, overnight feeds	Vancomycine, ciprofloxacin, metronidazole, Septrin, itraconazole	Metronidazole, 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.