Autosomal-dominant hyper-IgE syndrome is associated with appearance of infections early in life and/or neonatal rash: Evidence from the Italian cohort of 61 patients with elevated IgE

Approval for this study was obtained by the institutional review board of Spedali Civili of Brescia (NP 2834).Sequencing Patients with elevated IgE levels were analyzed for STAT3 mutations at the Institute of Molecular Medicine “Angelo Nocivelli” of Brescia, or were previously reported.E1,E2 Genomic DNA was isolated from 200 μL of blood samples by the DNeasy kit (Qiagen, Hilden, Germany) purification method. [...]the sequences were analyzed by using the BioEdit sequence software (Carlsbad, Calif). Microbiological analysis included serological screening for viruses (ie, human simplex virus, varicella-zoster virus, hepatitis C virus, hepatitis B virus, cytomegalovirus, and EBV) and microbial culture. Patients' features Immunologic analyses Pt Group Sex Age at onset (y) Age at diagnosis (y) First symptom WBC (cells/μL) L (cells/μL) E (%) E (cells/μL) IgE (UI/mL) IgG (mg/dL) IgA (mg/dL) IgM (mg/dL) 1 STAT3 AD-HIES F 4 35 Infection 4,320 1,092 3.2 138 1,251 1,060 135 62 2 STAT3 AD-HIES F Newborn 1 Eczema 6,280 3,564 4.9 307 5,000 1,047 102 99 3 STAT3 AD-HIES F 0.2 36 Infection 5,210 NA 7.7 401 5,000 1,100 135 91 4 STAT3 AD-HIES M Newborn 0.4 Eczema 31,010 5,750 60 18,606 961 201 52 76 5 STAT3 AD-HIES M Newborn 2 Eczema 21,150 4,575 11.9 2,516 5,000 819 44 86 6 STAT3 AD-HIES M 1.4 12 Infection 6,510 3,211 5 325 5,299 1,077 235 119 7 STAT3 AD-HIES M 0.2 11 Infection 10,600 NA 11 1,166 43,320 1,603 8 210 8 STAT3 AD-HIES M 2 27 Infection 7,900 NA 14 1,106 3,211 1,176 228 192 9 STAT3 AD-HIES F 0.2 11 Infection 12,940 2,588 14 1,811 54,805 3,299 339 140 10 STAT3 AD-HIES M 0.1 3 Eczema 10,700 2,511 17 181 5,380 1,361 102 123 11 STAT3 AD-HIES M 0.1 35 Eczema 8,200 NA 3.7 303 5,040 NA NA NA 12 STAT3 AD-HIES M 2 16 Infection 5,480 1,554 15 822 8,117 1,083 224 186 13 STAT3 AD-HIES F 4 12 Infection 12,800 2,560 1 128 13,000 3,135 156 854 14 STAT3 AD-HIES F Newborn 5 Eczema 12,040 2,640 5 602 22,610 1,560 79 249 15 STAT3 AD-HIES M Newborn 24 Infection 6,700 1,860 6 402 12,743 1,450 159 68 16 STAT3 AD-HIES M 0.2 0.6 Eczema NA NA NA NA NA NA NA NA 17 STAT3 AD-HIES F 0.7 3 Eczema 5,730 2,750 3 170 5,000 1,059 198 67 18 STAT3 AD-HIES F 0.1 11 Infection 6,700 2,650 NA NA 5,000 1,160 306 140 19 STAT3 AD-HIES M 1 46 Eczema NA NA NA NA NA NA NA NA 20 STAT3 AD-HIES M 0.1 6 Infection 17,900 3,225 13 2,300 4,118 1,560 42 76 21 STAT3 AD-HIES M Newborn 0.7 Eczema 22,510 4,970 16.6 4,430 1,034 1,034 64 72 22 STAT3 AD-HIES F 6 17 Infection 9,650 2,490 2.4 230 1,370 1,400 166 124 23 STAT3