{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T19:23:14Z","timestamp":1784143394247,"version":"3.55.0"},"reference-count":32,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T00:00:00Z","timestamp":1682294400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Alborz University of Medical Sciences","award":["5421"],"award-info":[{"award-number":["5421"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biology"],"abstract":"<jats:p>Cutaneous manifestations are one of the most common presentations among patients with inborn errors of immunity (IEI). These skin manifestations are often among the first presenting features in the majority of patients preceding the IEI diagnosis. We studied 521 available monogenic patients with IEI listed in the Iranian IEI registry up to November 2022. We extracted each patient\u2019s demographic information, detailed clinical history of cutaneous manifestations, and immunologic evaluations. The patients were then categorized and compared based on their phenotypical classifications provided by the International Union of Immunological Societies. Most patients were categorized into syndromic combined immunodeficiency (25.1%), non-syndromic combined immunodeficiency (24.4%), predominantly antibody deficiency (20.7%), and diseases of immune dysregulation (20.5%). In total, 227 patients developed skin manifestations at a median (IQR) age of 2.0 (0.5\u20135.2) years; a total of 66 (40.7%) of these patients initially presented with these manifestations. Patients with cutaneous involvement were generally older at the time of diagnosis [5.0 (1.6\u20138.0) vs. 3.0 (1.0\u20137.0) years; p = 0.022]. Consanguinity was more common among patients who developed skin disorders (81.4% vs. 65.2%, p &lt; 0.001). The overall skin infection rate and the type of dominant pathogens were significantly different among the IEI patients in different phenotypical classifications (p &lt; 0.001). Atopic presentation, including urticaria, was highly prevalent among patients with congenital defects of phagocytes (p = 0.020). The frequency of eczema was also significantly higher among cases with both syndromic and non-syndromic combined immunodeficiency (p = 0.009). In contrast, autoimmune cutaneous manifestations, including alopecia and psoriasis, were most common in patients with immune dysregulation (p = 0.001) and defects in intrinsic or innate immunity (p = 0.031), respectively. The presence of autoimmune cutaneous complications significantly improved the survival rate of IEI patients (p = 0.21). In conclusion, cutaneous manifestations were observed in nearly 44% of Iranian patients with monogenic IEI. A considerable number of patients with cutaneous involvements developed these disorders as their first manifestation of the disease, which was particularly noticeable in patients with non-syndromic combined immunodeficiency and phagocytic defects. The neglected skin disorders in IEI patients might delay diagnosis, which is generally established within a 3-year interval from the development of skin-related problems. Cutaneous disorders, especially autoimmune features, might indicate a mild prognosis in IEI patients.<\/jats:p>","DOI":"10.3390\/biology12050644","type":"journal-article","created":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T02:06:35Z","timestamp":1682388395000},"page":"644","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity"],"prefix":"10.3390","volume":"12","author":[{"given":"Niusha","family":"Sharifinejad","sequence":"first","affiliation":[{"name":"Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj 3149969415, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gholamreza","family":"Azizi","sequence":"additional","affiliation":[{"name":"Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj 3149969415, Iran"},{"name":"Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran 1419733141, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6906-5839","authenticated-orcid":false,"given":"Seyed Erfan","family":"Rasouli","sequence":"additional","affiliation":[{"name":"Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj 3149969415, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Chavoshzadeh","sequence":"additional","affiliation":[{"name":"Pediatric Infections Research Center, Mofid Children\u2019s Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Alireza","family":"Mahdaviani","sequence":"additional","affiliation":[{"name":"Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzieh","family":"Tavakol","sequence":"additional","affiliation":[{"name":"Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj 3149969415, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homa","family":"Sadri","sequence":"additional","affiliation":[{"name":"Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj 3149969415, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Nabavi","sequence":"additional","affiliation":[{"name":"Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran 1449614535, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sareh Sadat","family":"Ebrahimi","sequence":"additional","affiliation":[{"name":"Department of Immunology and Allergy, Kerman University of Medical Sciences, Kerman 7619833477, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshin","family":"Shirkani","sequence":"additional","affiliation":[{"name":"Allergy and Clinical Immunology Department, School of Medicine, Bushehr University of Medical Science, Moallem St., Bushehr 7514763448, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Vosughi Motlagh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 7487794149, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tooba","family":"Momen","sequence":"additional","affiliation":[{"name":"Department of Asthma, Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute of Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan 8174673461, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samin","family":"Sharafian","sequence":"additional","affiliation":[{"name":"Pediatric Infections Research Center, Mofid Children\u2019s Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrnaz","family":"Mesdaghi","sequence":"additional","affiliation":[{"name":"Pediatric Infections Research Center, Mofid Children\u2019s Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narges","family":"Eslami","sequence":"additional","affiliation":[{"name":"Pediatric Infections Research Center, Mofid Children\u2019s Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samaneh","family":"Delavari","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran 1419733141, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sasan","family":"Bahrami","sequence":"additional","affiliation":[{"name":"Department of Digital Media, Westphal College of Media Arts and Design, Drexel University, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Yazdani","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran 1419733141, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nima","family":"Rezaei","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran 1419733141, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4838-0407","authenticated-orcid":false,"given":"Hassan","family":"Abolhassani","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran 1419733141, Iran"},{"name":"Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institutet, Karolinska University Hospital, Huddinge, 141 86 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10875-022-01289-3","article-title":"Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee","volume":"42","author":"Tangye","year":"2022","journal-title":"J. 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