Shoo Aika, Godfrey Evance, Mally Deogratius, Said Yasser, Dealmeida Mary, Muze Kandi, Mkopi Namala
Muhimbili National Hospital, Dar es Salaam, Tanzania.
Emory University School of Medicine, Atlanta, Georgia, United States of America.
Pan Afr Med J. 2024 Oct 11;49:33. doi: 10.11604/pamj.2024.49.33.42418. eCollection 2024.
Hyper immunoglobulin M (IgM) syndromes are a collection of uncommon primary combined immunodeficiency disorders. They are characterized by recurrent bacterial infections due to low levels of IgG, IgA, and IgE, while IgM levels remain normal or high. These conditions stem from a mutation in the CD40 ligand gene or disruptions in the CD40-signaling pathway. Those affected face increased susceptibility to frequent bacterial infections, an elevated likelihood of autoimmune issues, and early-onset malignancies. These syndromes are rare and account for a small fraction of immunodeficiency cases. We describe a case of an African infant, who had a prolonged pediatric intensive care unit admission due to recurrent and severe infections which took a prolonged course of medication to be treated. After a diagnostic workup, a diagnosis of X-linked hyper IgM syndrome was established, and currently, our child is on monthly replacement of IV immunoglobulin and daily prophylactic cotrimoxazole tablets. Early diagnosis of primary immunodeficiency disorders reduces the incidence of infections and the severity of complications. This case demonstrates the consequences of delayed diagnosis and resulting in a prolonged hospital stay.
高免疫球蛋白M(IgM)综合征是一组罕见的原发性联合免疫缺陷疾病。其特征是由于IgG、IgA和IgE水平低下而反复发生细菌感染,而IgM水平保持正常或升高。这些病症源于CD40配体基因的突变或CD40信号通路的破坏。患者面临频繁细菌感染的易感性增加、自身免疫问题的可能性升高以及早发性恶性肿瘤。这些综合征很罕见,在免疫缺陷病例中占比很小。我们描述了一例非洲婴儿的病例,该婴儿因反复严重感染而长期入住儿科重症监护病房,需要长时间的药物治疗才能治愈。经过诊断检查,确诊为X连锁高IgM综合征,目前,我们的患儿每月接受静脉注射免疫球蛋白替代治疗,并每日服用预防性复方磺胺甲恶唑片。原发性免疫缺陷疾病的早期诊断可降低感染发生率和并发症的严重程度。本病例展示了延迟诊断的后果以及导致住院时间延长的情况。