Kihtir Zeynep, Çelik Kıymet, Tayfun Küpesiz Funda, Küpesiz Osman Alphan, Kocacik Uygun Dilara Fatma, Arayici Sema, Ongun Hakan, Acarbulut İpek, Sağlam Celal, Ceylaner Gülay, Bingöl Ayşen
Department of Neonatology, Akdeniz University Medical Faculty, Antalya, Turkey.
Department of Pediatric Hematology and Oncology, Akdeniz University Medical Faculty, Antalya, Turkey.
Pediatr Allergy Immunol Pulmonol. 2022 Mar;35(1):43-46. doi: 10.1089/ped.2021.0070.
Specific granule deficiency (SGD) is a rare immunodeficiency associated with gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature. In this study, we present the first report of a case with a novel homozygous mutation in the gene of SGD type 2, which was successfully treated with bone marrow transplantation. A male infant presented to our neonatal intensive care unit on the second day of life with an icteric appearance and mild hypotonia. He was evaluated for immunodeficiency as the cause of delayed cord separation and refractory neutropenia. At 6 weeks of age, SGD type 2 with a new variant was diagnosed and successfully treated by bone marrow transplantation. SGD is an immunodeficiency disease that is quite rare. However, we believe that SGD diagnosis and associated new variants can be detected more frequently with the widespread use of all whole-exome sequencing techniques.
特异性颗粒缺陷（SGD）是一种与基因变异相关的罕见免疫缺陷病。它可导致严重的反复感染，若未成功进行干细胞移植则会致命。文献中很少描述1型和2型SGD同时存在的病例。在本研究中，我们首次报告了1例2型SGD基因存在新型纯合突变的病例，该病例通过骨髓移植成功治愈。一名男婴在出生第二天因黄疸外观和轻度肌张力低下入住我们的新生儿重症监护病房。他因脐带延迟脱落和难治性中性粒细胞减少症被评估为免疫缺陷病。6周龄时，诊断出患有新型变异的2型SGD，并通过骨髓移植成功治愈。SGD是一种非常罕见的免疫缺陷病。然而，我们相信随着全外显子测序技术的广泛应用，SGD的诊断及相关新变异将能更频繁地被检测到。
