immunodeficiency

摘要： Human immunodeficiency virus-1(HIV)reservoirs in the human brain:Antiretroviral therapy(ART)effectively decreases active HIV replication to undetectable levels.Therefore,it greatly improves the quality of life for people living with HIV(PLWH).

摘要： 艾滋病即获得性免疫缺陷综合征(acquired immunodeficiency syndrome,AIDS),是由于人体感染人类免疫缺陷病毒(human immunodeficiency virus,HIV),从而造成机体免疫功能部分或完全丧失^([1])。中期妊娠是妊娠第14~27周末^([2]),终止中期妊娠的常用治疗方案为依沙吖啶羊膜腔注射、缩宫素、米非司酮联合米索前列醇、水囊和剖宫取胚等。

摘要： 获得性免疫缺陷综合征(acquired immunodeficiency syndrome,AIDS)是 人 类 免 疫 缺 陷 病 毒(human immunodeficiency virus,HIV)攻击CD4+淋巴细胞,引发人体免疫功能受损,引起一系列机会性疾病.其中消化系统是HIV最易攻击一个部位[1],因此,肠镜检查在HIV患者中起着至关重要的作用.本文回顾性分析85例AIDS临床表现、肠镜、病理特点,为临床医师对该类疾病的诊治提供参考.

摘要： Epstein-Barr virus (EBV) mucocutaneous ulceration is a rare complication of immunosuppression that results in painful ulceration of the tongue or gingiva, and less commonly, refractory ulceration of the gastrointestinal tract. High clinical suspicion is required, as failure to diagnose EBV mucocutaneous ulceration may result in significant morbidity and mortality. We report the case of a 64-year-old female renal transplant recipient requiring admission to hospital for management of severe oral and epigastric pain. Examination revealed a large, superficial, well-circumscribed ulcer at the base of the tongue. Blood tests suggested a secondary immunodeficiency characterised by mild leucopenia, hypogammaglobulinaemia, and low memory B-cells with normal immunophenotype. Endoscopy revealed four, cratered ulcers in the pre-pyloric region of the stomach. A core biopsy of the tongue ulcer confirmed EBV mucocutaneous ulceration. The patient’s immunosuppression was optimised, which resulted in complete resolution of the tongue and gastric ulcers at eight and twelve weeks of follow-up respectively.

摘要： Common variable immunodeficiency (CVID) is one of the most prevalent primary immunodeficiency disorders, characterized by an alteration in the maturation of B lymphocytes. Patients with this condition are redisposed to a higher risk of infections. Despite being an immune deficiency disorder, the prevalence of autoimmune disorders is reported in more than 20% of patients. The likelihood of patients’ gastrointestinal tract being affected is relatively low, close to 6%. We present the case of a 22-year-old man with a history of CVID without medical treatment, who presented with upper gastrointestinal bleeding secondary to esophageal varices due to cirrhotic portal hypertension. Infectious and toxic causes of cirrhosis were ruled out. Histological changes compatible with autoimmune hepatitis (AIH) were documented by liver biopsy. The diagnosis of autoimmune diseases is a challenge in the presence of IDCV, we highlight the importance of establishing a timely diagnosis and an intentional search for these conditions to offer timely treatment and avoid late complications.

摘要： 近日,一篇发表在国际期刊《Nature Microbiology》上的研究显示,染色体结构维持蛋白(structure maintenance of chromosome,SMC)5/6复合体或许能在整合前通过表观遗传学沉默具有整合能力的1型人类免疫缺陷病毒(human immunodeficiency virus type 1,HIV-1)前病毒,在介导HIV-1潜伏期的建立中发挥着直接的作用。

摘要： BACKGROUND Trismus is a common problem with various causes.Any abnormal conditions of relevant anatomic structures that disturb the free movement of the jaw might provoke trismus.Trismus has a detrimental effect on the quality of life.The outcome of this abnormality is critically dependent on timely diagnosis and treatment,and it is difficult to identify the true origin in some cases.We present a rare case of trismus due to fungal myositis in the pterygoid muscle,excluding any other possible pathogenesis.CASE SUMMARY The patient presented with a 2-mo history of restricted mouth opening.Computed tomography showed obvious enlargement of the left pterygoid muscles.Furthermore,the patient had trismus without obvious predisposing causes.The primary diagnosis was pterygoid myosarcoma.Consequently,lesionectomy of the left pterygoid muscle was performed.Intraoperative frozen biopsy implied the possibility of an uncommon infection.Postoperative pathologic examination confirmed myositis and necrosis in the pterygoid muscle.Fungi were detected in both muscle tissue and surrounding necrotic tissue.The patient recovered well with antifungal therapy and mouth opening exercises.The rarity of fungal myositis may be responsible for the misdiagnosis.Although the origin of pathogenic fungi is still unknown,we believe that both hematogenous spread and local invasion could be the most likely sources.To the best of our knowledge,this is therst case in the literature that reported fungal myositis in pterygoid muscles as the only reason that results in trismus.CONCLUSION Surgeons should remain vigilant to the possibility of trismus originating from fungal myositis.

摘要： BACKGROUND The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases(V-ATPase)is located on chromosome Xq28.Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disorders of glycosylation(CDG).CDG is a group of metabolic disorders in which defective protein and lipid glycosylation processes affect multiple tissues and organs.Therefore,the clinical presentation of patients with ATP6AP1-CDG varies widely.In this report,we present a case of ATP6AP1-CDG in a Chinese infant,with clinical features and genotype.CASE SUMMARY An 8-mo-old boy was admitted to our hospital because unexplained hepatosplenomegaly and elevated transaminases that had been noted while he was being treated for a cough at a local hospital.A post-admission examination at our hospital revealed abnormalities in the infant’s liver,brain,and immune system.Trio-based whole exome gene analysis identified a hemizygous pathogenic mutation c.1036G>A(p.E346K)in exon 9 of the ATP6AP1 gene.This variant of the ATP6AP1 gene has not been reported in East Asian countries until now.CONCLUSION Based on the infant’s clinical manifestations and the results of genetic detection,he was clearly diagnosed with ATP6AP1-CDG.The clinical manifestations of children with CDG vary widely.Genetic testing analysis helps in the clinical diagnosis of children with CDG.

摘要： BACKGROUND Infantile-onset inflammatory bowel disease(IO-IBD)occurs in very young children and causes severe clinical manifestations,which has poor responses to traditional inflammatory bowel disease(IBD)treatments.At present,there are no simple and reliable laboratory indicators for early screening IO-IBD patients,especially those in whom the disease is caused by monogenic diseases.AIM To search for valuable indicators for early identifying IO-IBD patients,especially those in whom the disease is caused by monogenic diseases.METHODS A retrospective analysis was performed in 73 patients with IO-IBD admitted to our hospital in the past 5 years.Based on the next-generation sequencing results,they were divided into a monogenic IBD group(M-IBD)and a non-monogenic IBD group(NM-IBD).Forty age-matched patients with allergic proctocolitis(AP)were included in a control group.The clinical manifestations and the inflammatory factors in peripheral blood were evaluated.Logistic regression analysis and receiver operating characteristic(ROC)curve analysis were used to identify the screening factors and cut-off values of IO-IBD as well as monogenic IO-IBD,respectively.RESULTS Among the 44 M-IBD patients,35 carried IL-10RA mutations,and the most common mutations were c.301C>T(p.R101W,30/70)and the c.537G>A(p.T179T,17/70).Patients with higher serum tumor necrosis factor(TNF)-αvalue were more likely to have IBD[odds ratio(OR)=1.25,95%confidence interval(CI):1.05-1.50,P=0.013],while higher serum albumin level was associated with lower risk of IBD(OR=0.86,95%CI:0.74-1.00,P=0.048).The cut-off values of TNF-αand albumin were 17.40 pg/mL(sensitivity:0.78;specificity:0.88)and 36.50 g/L(sensitivity:0.80;specificity:0.90),respectively.The increased ferritin level was indicative of a genetic mutation in IO-IBD patients.Its cut-off value was 28.20 ng/mL(sensitivity:0.93;specificity:0.92).When interleukin(IL)-10 level was higher than 33.05 pg/mL(sensitivity:1.00;specificity:0.84),or the onset age was earlier than 0.21 mo(sensitivity:0.82;specificity:0.94),the presence of diseasecausing mutations in IL-10RA in IO-IBD patients was strongly suggested.CONCLUSION Serum TNF-αand albumin level could differentiate IO-IBD patients from allergic proctocolitis patients,and serum ferritin and IL-10 levels are useful indicators for early diagnosing monogenic IO-IBD.

摘要： 普通变异型免疫缺陷病(common variable immunodeficiency,CVID)是一类以血清免疫球蛋白G(IgG)、IgA和/或IgM水平降低,易发生复发细菌感染、自身免疫和炎性疾病及恶性肿瘤为特征的原发性免疫缺陷病(primary immunodeficiency diseases,PID)。目前欧洲报道其发病率为1/50000~1/10000[1],我国尚未有相关发病率或患病率报道。CVID患者多在2岁后发病,发病年龄多集中在10~30岁,最晚发病年龄可至72岁[2]。