Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene

Table 1 Characteristics of patients with childhood-onset inflammatory bowel disease in this study (n = 18)

Disease	UC	CD	IBD-U
n	10	5	3
Sex (male, female)	8, 2	4, 1	1, 2
Median age at onset in yr (range)	9.5 (1-13)	12.0 (6-13)	6.0 (1-9)
Symptoms (number of positive patients)
Diarrhea	10	5	1
Mucosal aphthae	1	2	0
Eczema	0	1	0
Skin abscesses	0	0	0
Thrombocytopenia	0	0	0
Recurrent infection	0	0	0

UC: Ulcerative colitis; CD: Crohn’s disease; IBD-U: Inflammatory bowel disease-unclassified.

Table 2 Previous reports of the c.1378C>T, p.Pro460Ser mutation of WAS

Phenotype	Sex	Age at onset	Platelet (×103/μL)	WASP expression	Ref.
XLT	M	8 mo	65-100	low	Lutskiy et al[20]
XLT	M	4 d	low	low	Lee et al[21]
WAS	M	N.D.	low	N.D.	Gulácsy et al[22]1
XLT	M	6 yr	5	low	Ouchi-Uchiyama et al[23]

¹This patent has double mutation (p.Pro460Ser and p.Met474Thr). ND: No data; XLT: X-linked thrombocytopenia; WAS: Wiskott-Aldrich syndrome; WASP: Wiskott-Aldrich syndrome protein.

Table 3 Clinical features of three patients with WAS c.1378C>T, p.Pro460Ser mutation

Patient	Sex	Diagnosis	Age at onset	Clinical symptoms	Platelet count (× 103/μL) /mean platelet volume (fl)	Present status and treatment
Patient 1	M	CD	12 yr	Fever, Eczema, Watery diarrhea	431/8.9	Remission mesalazine, azathioprine and infliximab
Patient 2	M	UC	11 yr	Mucous-bloody diarrhea	220/10.4	Remission mesalazine and azathioprine
Patient 3	M	UC	2 yr	Mucous-bloody diarrhea	339/9.4	Remission mesalazine and prednisolone enema

UC: Ulcerative colitis; CD: Crohn’s disease; mean platelet volume (fl), normal 8.9-12.6.