Table 1.

Summary of the clinical characteristics of the patients with AD IL6ST variants

	Kindred A		Kindred B					Kindred C	Published patients
	P1	P2	P3	P4	P5	P6	P7	P8	(n = 12)
Mutant allele	p.Ser731Valfs *8		p.Ser731Valfs *8					p.Arg768*	Various
Age (years)	38	11	70	47	45	33	41	20	Range = 12-72
Sex	M	F	F	F	F	F	M	M	8M, 4F
HIES score	37	28	13	12	42	24	ND	51	Range = 20-70
IgE levels (IU/mL)	1393	10,600	202	43	8290	330	ND	3258	Mean = 6057 Range = 218–18,700
High IgE levels	+	+	+	-	+	+	ND	+	100%
Eosinophilia	-	+	-	-	+	-	ND	+	73%
Atopic dermatitis	+	-	-	-	+	+	-	+	73%
Asthma	-	+	+	-	+	+	-	+	67%
Allergy
Food allergies	-	-	-	-	+	-	-	-	9%
Respiratory allergies	-	+	-	-	+	+	-	+	64%
Skin abscesses	+	-	-	-	-	-	-	-	36%
Chronic mucocutaneous candidiasis (CMC)	-	-	-	-	-	-	-	-	9%
Recurrent skin infections (other than CMC)	+	-	-	-	-	-	-	-	25%
Severe chicken pox/shingles	-	-	-	-	-	-	-	-	27%
Upper respiratory tract infections	+	+	+	-	+	+	-	+	55%
Pulmonary disease
Recurrent infections	+	+	+	-	+	-	-	+	92%
Pneumonia	+	-	+	-	+	+	-	+	91%
Bronchiectasis	ND	+	+	-	+	+	-	+	60%
Pneumatocele	ND	-	ND	-	+	-	-	-	55%
Fatal infection	-	-	-	-	-	-	-	-	17%
Connective tissue abnormalities
Characteristic face	-	-	-	-	-	-	-	+	45%
High palate	-	-	-	-	-	-	-	-	27%
Scoliosis	+	+	+	+	+	+	+	-	64%
Joint hyperextensibility	+	+	ND	-	-	-	-	+	55%
Bone fractures with minimal trauma	+	-	-	+	-	-	-	+	36%
Clubfoot	-	-	-	-	-	-	-	-	18%
Supernumerary teeth	-	-	-	-	-	-	-	-	30%
Deciduous tooth retention	+	+	-	-	-	-	-	+	82%