Altamimi Abdullah M, Qadoumi Tala A, Alajroush Waleed, Alzomia Mohmmed A, Aljarbou Ohoud
Dermatology, King Abdulaziz Medical City, Ministry of National Guard ‑ Health Affairs, Riyadh, SAU.
Dermatology, King Khalid University Hospital, Riyadh, SAU.
Cureus. 2022 Jan 19;14(1):e21415. doi: 10.7759/cureus.21415. eCollection 2022 Jan.
Interleukin-12 RB1 (IL12RB1) deficiency falls under the Mendelian susceptibility to mycobacterial disease. It is a rare genetic disease with autosomal recessive inheritance. It is characterized by recurrent infections with otherwise weak bacteria, such as mycobacteria and . Often, when encountering a maculopapular eruption, a drug-related cause comes to mind. However, we report a case of IL12RB1 deficiency presenting with a maculopapular eruption, proven by a skin biopsy to be leukocytoclastic vasculitis. The patient was given antibiotics, which improved her skin lesions. Vasculitis should be considered in the differential diagnosis in patients with IL12RB1 deficiency presenting with a cutaneous eruption.
白细胞介素-12受体β1(IL12RB1)缺陷属于对分枝杆菌病的孟德尔易感性范畴。它是一种罕见的常染色体隐性遗传疾病。其特征为反复感染其他致病性较弱的细菌,如分枝杆菌等。通常,当遇到斑丘疹时,人们往往会想到药物相关原因。然而,我们报告了一例IL12RB1缺陷患者出现斑丘疹的病例,经皮肤活检证实为白细胞破碎性血管炎。该患者接受了抗生素治疗,皮肤病变有所改善。对于出现皮肤疹的IL12RB1缺陷患者,在鉴别诊断中应考虑血管炎。