Hejazi Rayan, Hasosah Mohammed
Department of Pediatrics, National Guard Health Affairs, Jeddah, Saudi Arabia.
Department of Pediatric Gastroenterology, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center (KAIMRC), National Guard Health Affairs, Jeddah, Saudi Arabia.
BMJ Case Rep. 2019 Aug 4;12(8):e228986. doi: 10.1136/bcr-2018-228986.
The immune system is composed of innate humoral defence and adaptive immunity. One of the key mechanisms of the innate humoral defence is through complement activation. Mutations of certain enzyme may affect the complement activation and result in decreased defence against microorganisms. Mannan-binding lectin serine protease 2 (MASP-2) mutation was associated with recurrent infections and autoimmune diseases. Tuberculosis (TB) has been linked with mannose-binding lectin and MASP-2 gene polymorphism. We report a case of a paediatric patient with MASP-2 deficiency with classical and atypical features associated with Crohn's, onychomycosis and severe cutaneous infections including TB. We also report the presence of a new mutation variant in MASP-2 reported in whole exome sequencing of our patient.
免疫系统由固有体液防御和适应性免疫组成。固有体液防御的关键机制之一是通过补体激活。某些酶的突变可能影响补体激活，并导致对微生物的防御能力下降。甘露糖结合凝集素丝氨酸蛋白酶2（MASP-2）突变与反复感染和自身免疫性疾病有关。结核病（TB）与甘露糖结合凝集素和MASP-2基因多态性有关。我们报告了一例患有MASP-2缺乏症的儿科患者，其具有与克罗恩病、甲癣和包括结核病在内的严重皮肤感染相关的典型和非典型特征。我们还报告了在我们患者的全外显子组测序中发现的MASP-2新突变变体。
