Yahya Amal M, Al-Hammadi Suleiman, AlHashaykeh Nidal O, Alkaabi Salwa S, Elomami Abdulghani S, AlMulla Asia A, Alremeithi Majed M, Kabbary Rewan M, Vijayan Ranjit, Souid Abdul-Kader
Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.
College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.
Front Pediatr. 2021 Nov 2;9:713924. doi: 10.3389/fped.2021.713924. eCollection 2021.
We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2():c.820_823dup p.Ser275Asnfs29. He developed aggressive reactive lymphohistiocytic proliferation after receiving the live-attenuated Bacillus Calmette-Guérin (BCG) vaccine at birth. This report advocates for modifying the current practice of early use of BCG. The natural history of his disease also suggests considering variants as a potential cause of "X-linked recessive Mendelian susceptibility to mycobacterial disease" (MSMD). His reactive lymphohistiocytic proliferation and massive hepatosplenomegaly simulated hemophagocytic lymphohistiocytosis (HLH, likely triggered by the BCG disease). This entity was masked by the absence of fever and markedly elevated inflammatory biomarkers. Thus, his findings stimulate discussion on the need to modify the diagnostic criteria of HLH, in order to accommodate conditions, such variants that block systemic inflammation.
我们在此报告一名患有X连锁重症联合免疫缺陷（MIM#300400）的男性幼儿，该疾病由白细胞介素2受体γ（MIM#308380）基因（NM_000206.2）的新型无义变异c.820_823dup p.Ser275Asnfs29所致。他在出生时接种卡介苗（BCG）减毒活疫苗后出现了侵袭性反应性淋巴细胞组织细胞增生。本报告主张改变目前早期使用BCG疫苗的做法。他的疾病自然史也提示应考虑将该变异作为“X连锁隐性孟德尔遗传性分枝杆菌病易感性”（MSMD）的潜在病因。他的反应性淋巴细胞组织细胞增生和巨大肝脾肿大类似于噬血细胞性淋巴组织细胞增生症（HLH，可能由BCG病触发）。由于无发热且炎症生物标志物未显著升高，这一情况被掩盖。因此，他的病例促使人们讨论是否需要修改HLH的诊断标准，以适应诸如这种阻断全身炎症的变异情况。
