Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease

Table 1 Clinical and laboratory characteristics of patients

	Patient A	Patient B	Patient C	Patient D	Normal range
Sex	Male	Female	Male	Female
Consanguinity	-	-	-	-
Disease onset	3 mo	9 mo	11 d	18 d
Diarrhea (times/d)	1	8	20	6
Bloody stool	+	-	+	+
Weight (kg) SDS	7.65 (-1.475)	6.2 (-1.4)	8.2 (-1.05)	6.3 (-1.15)
Height (cm) SDS	76 (-1.7)	65.2 (-3.65)	78 (0.25)	67 (1)
Perianal disease	+	+	+	+
Extragastro-intestinal manifestations	Fever, UTI, Sepsis	Recurrent otitis media	Fever, respiratory infetion	Fever, UTI, eczama
WBC (× 109)	12.4	19.44	15.34	24.5	3.69-9.16
Hemoglobin (g/L)	101	77	107	96	113-151
Platelet (× 109)	624	621	424	387	101-320
IL-10 (pg/mL)	87.3	106	43.4	80.4	< 12.9
TNF-α (pg/mL)	20.7	30.5	3.9	19.8	< 16.5
ESR (mm/h)	6	55	19	23	F: 0-20; M: 0-15
Albumin (g/L)	28	29	33	23	35-55
Ferritin	17	47.3	46.5	68.2	11-306.8
Identified mutation	IL10RA (c.301C>T, p.R101W): Exon 1 del	IL10RA (c.537G>A, p.T179T): Exon 1 del	IL10RA (c.537G>A, p.T179T): Exon1 del	IL10RA (exon.1 del): Exon 1 del

SDS: Standard deviation score; UTI: Urinary tract infection; TNF-α: Tumor necrosis factor α; IL10RA: Interleukin-10 receptor α subunit; del: Deletion; WBC: White blood cell.