PDF(Pubmed)
Abstract：
A 35-year-old man with a late-onset combined immunodeficiency (LOCID) variant of common variable immunodeficiency, severe plaque psoriasis, psoriatic arthritis, and Crohn\'s disease was attended in the Regional Hospital of Presidente Prudente and HC-FMUSP, São Paulo, Brazil. Anti-IL-12/IL-23 (ustekinumab) monoclonal antibody was prescribed due to the failure of other treatments (phototherapy, oral acitretin) for psoriasis and a Psoriasis Area Severity Index >10. We evaluated the impact of treatment with ustekinumab on severe infectious diseases in a patient with uncontrolled psoriasis and LOCID followed for 8 years. Four quarterly doses of ustekinumab 90 mg and human immunoglobulin replacement (10,000 mg at 28-day intervals) were administered. Immunophenotyping, cultures of lymphocytes, genetic sequencing, and whole exome sequencing were performed to investigate the primary immunodeficiency. Normal lymphocyte proliferation; pathogenic variants in genetic sequencing, and clinically significant variants in the whole exome for primary immunodeficiencies were not detected. The main infections before and after treatment with ustekinumab were chronic sinusitis and gastroenteritis. The patient was infected with COVID-19, dengue (twice) and influenza and was hospitalized three times for intravenous antibiotic therapy. Ustekinumab did not influence the susceptibility of the patient with LOCID to severe infections and significantly improved psoriasis, psoriatic arthritis, and Crohn\'s disease.
摘要：
一名35岁的男性患有常见可变免疫缺陷的迟发性联合免疫缺陷（LOCID）变体，严重斑块型银屑病,银屑病关节炎,克罗恩病在Prudente总统和HC-FMUSP地区医院就诊，圣保罗,巴西。抗IL-12/IL-23（ustekinumab）单克隆抗体是由于其他治疗的失败而规定的（光疗，口服阿维A）用于牛皮癣和牛皮癣面积严重程度指数>10。我们评估了ustekinumab治疗对未控制的银屑病和LOCID患者严重感染性疾病的影响，随访8年。施用四个季度剂量的ustekinumab90mg和人免疫球蛋白替代(10,000mg,间隔28天)。免疫表型分型,淋巴细胞培养，基因测序,进行全外显子组测序以研究原发性免疫缺陷。正常淋巴细胞增殖；基因测序中的致病变异，并且在原发性免疫缺陷的整个外显子组中未检测到临床上显著的变异。ustekinumab治疗前后主要感染为慢性鼻窦炎和胃肠炎。该患者感染了COVID-19，登革热（两次）和流感，并因静脉抗生素治疗住院3次。Ustekinumab不影响LOCID患者对严重感染的易感性，并显著改善银屑病，银屑病关节炎,和克罗恩病。
