TY - JOUR AU - Hristomanova, Slavica AU - Spiroski, Mirko PY - 2013/12/15 Y2 - 2024/03/28 TI - The Hyperimmunoglobulinemia E Syndromes: A Literature Review JF - Open Access Macedonian Journal of Medical Sciences JA - Open Access Maced J Med Sci VL - 1 IS - 1 SE - F - Review Articles DO - 10.3889/oamjms.2013.024 UR - https://oamjms.eu/index.php/mjms/article/view/oamjms.2013.024 SP - 117-126 AB - <span style="font-family: 'Arial','sans-serif'; font-size: 8pt; mso-fareast-font-family: 'Times New Roman'; mso-ansi-language: EN-GB; mso-fareast-language: AR-SA; mso-bidi-language: AR-SA; mso-bidi-font-size: 12.0pt;" lang="EN-GB">The hyper-immunoglobulin E (IgE) syndromes (HIES) are primary immunodeficiencies characterized by the recurrent staphylococcal abscesses, recurrent pneumonia and highly elevated serum IgE levels. There are two forms of HIES: a dominant form (AD-HIES) and a recessive form (AR-HIES). AD form of HIES is caused by mutations in STAT3 and the AR form is caused by mutations in DOCK8 and TYK2. These syndromes have different clinical presentations and outcomes. AD-HIES is a multisystem disorder that includes abnormalities of the skin, lungs, musculo-skeletal system and dental system. In contrast, these symptoms in patients with AR-HIES are missing. AR-HIES patients have severe viral infections and may develop neurological complications. <span style="background: white; color: black;">This<span> </span><span>review</span><span> </span>article discusses</span> the clinical presentation and laboratory findings in both forms of HIES, as well as the establishment of diagnose, inheritance, molecular genetics and immunological abnormalities of HIES.</span> ER -