{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T09:32:14Z","timestamp":1786613534081,"version":"build-2736575974"},"reference-count":50,"publisher":"Pensoft Publishers","issue":"4","license":[{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FM"],"abstract":"<jats:p>\n                    <jats:bold>Abstract<\/jats:bold>\n                  <\/jats:p>\n                  <jats:p>Hyper-IgE syndromes (HIES) are rare inborn errors of immunity (\u22481 per million) caused by pathogenic variants in STAT3, DOCK8 or IL6ST. They present with very high serum immunoglobulin E (IgE), recurrent bacterial or fungal infections, eczema and characteristic organ involvement. The autosomal dominant STAT3-deficient form features early-onset eczema, \u201ccold\u201d abscesses, recurrent pneumonias with pneumatoceles and skeletal or dental anomalies. Autosomal recessive forms such as DOCK8 or PGM3 deficiency show a more severe phenotype with viral skin infections, allergy, asthma and increased malignancy risk. HIES should be suspected in children with IgE &amp;gt;2000 IU\/mL plus recurrent sinopulmonary or skin infections, severe eczema, atypical viral infections or a National Institutes of Health Hyper-IgE Syndrome (NIH HIES) score &amp;gt;40. Differentiation from severe atopic dermatitis, asthma, eosinophilic disorders and parasitic infections is essential. Evaluation includes eosinophils, lymphocyte subsets, T-helper 17 (Th17) cell analysis and targeted genetic testing. Management involves antimicrobial prophylaxis, treatment of complications, dermatologic care and genotype-based hematopoietic stem cell transplantation (HSCT), which is curative in DOCK8 but less effective in STAT3 deficiency. Early genomic confirmation enables timely recognition, identification of red flags, and genotype-specific therapy to improve long-term outcomes.<\/jats:p>","DOI":"10.3897\/folmed.68.e173262","type":"journal-article","created":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T09:21:47Z","timestamp":1786612907000},"source":"Crossref","is-referenced-by-count":0,"title":["Hyper-IgE syndromes in pediatrics: clinical spectrum, differential diagnosis, and management"],"prefix":"10.3897","volume":"68","author":[{"given":"Svjetlana","family":"Mikuli\u0107","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University Clinical Hospital Mostar, Mostar, Bosnia and Herzegovina"},{"name":"School of Medicine, University of Mostar, Mostar, Bosnia and Herzegovina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mila Vasilj","family":"Mihaljevi\u0107","sequence":"additional","affiliation":[{"name":"Specialist Family Medicine Practice Dr. Mila Vasilj Mihaljevi\u0107, Vukovar, Croatia"},{"name":"Faculty of Medicine, Josip Juraj Strossmayer University Osijek, Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Kraljevi\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Clinical Hospital Mostar, Mostar, Bosnia and Herzegovina"},{"name":"School of Medicine, University of Mostar, Mostar, Bosnia and Herzegovina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2258","published-online":{"date-parts":[[2026,8,13]]},"reference":[{"key":"173262_B1","doi-asserted-by":"crossref","unstructured":"Minegishi Y. 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