On Two Cases with Autosomal Dominant Hyper IgE Syndrome: Importance of Immunological Parameters for Clinical Course and Follow-Up

Table 1

Hyper IgE Syndrome Scores and STAT3 mutation data.

Symptoms	Patient 1	Points	Patient 2	Points
Highest IgE	2180 IU/ml	10	9740 IU/ml	10
Skin abscesses	3-4	4	3-4	4
Pneumonia	2	4	2	4
Parenchymal lung abnormalities	Pneumatocele	8	Pneumatocele	8
Other serious infection	Empyema and abscesses pulmonum	4	Abscesses retroperitonealis and subfrenicus dextra	4
Fatal infection	Absent	0	Peritonitis, perforation colon transversum	4
Highest eosinophils (10^9 L)	0.94	6	0, 7	6
Newborn rash	Absent	0	Absent	0
Eczema (worst stage)	Moderate	2	Moderate	2
Sinusitis/otitis	1–3	1	Absent	0
Candidiasis	Finger/nail	2	Systemic	4
Retained primary teeth	>3	8	>3	8
Scoliosis, max curve	Absent	0	Absent	0
Fractures with little trauma	Absent	0	Absent	0
Hyperextensibility	Absent	0	Absent	0
Characteristic face	Mild	2	Absent	0
Increased nose width (interallar distance)	1-2 SD	1	Absent	0
High palate	Present	2	Present	2
Midline anomaly	Absent	0	Absent	0
Lymphoma	Absent	0	Absent	0
Young age add-on	<1 year	7	<1 year	7
SCORE		61		63
STAT3 mutations	NM_139276.2(STAT3):с.1850 G > A(p.Gly617Glu)		NM_139276.2; (STAT3):c.1145 G > T (p.Arg382Leu)