Background

Mutations in NFKB1(nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) are associated with a variety of clinical symptoms, including lymphadenopathy, splenomegaly, hepatomegaly, autoimmune haemolytic anaemia, arthralgia, recurrent respiratory tract infections and post-operative necrotizing cellulitis.

Case presentation

We describe a case of a 47-year-old man, who presented with deep necrotizing cellulitis after incision of a submucous abscess by a dentist. Surgical intervention led to a massive progress. Pyoderma gangraenosum (PG) was diagnosed clinically and confirmed histopathologically. High dose corticosteroids and intravenous immunoglobulins (IVIG) improved wound healing dramatically. Until now, immune mediated inflammation events not only affected the skin, but also multiple inner organs, i.e. the heart, lungs and gut. Sequencing of all coding exons of NFKB1 revealed a heterozygous 1bp deletion in exon 23 predicting a frameshift starting at codon Ala891 and resulting in a subsequent stop codon at position 6 in the new reading frame: NM_003998.4: c.2671del; p.(Ala891Glnfs*6) Acute episodes were always successfully treated with corticosteroids, IVIG and concomitant antibiotics. To prevent further exacerbations, the patient receives IVIG once a month, low-dose corticosteroids and methotrexate.

Conclusion

This is the first case of a patient with recurrent necrotizing cellulitis and immune mediated multi-organ involvement (heart, lungs, intestine) carrying the novel frameshift mutation c.2671del (p.Ala891Glnfs*6) in NFKB1 effectively treated with IVIG, low-dose corticosteroids and methotrexate.

中文翻译：

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新型NFKB1移码突变导致的复发性坏死性蜂窝织炎，多器官自身免疫性疾病和体液免疫缺陷

背景

NFKB1（B细胞1中Kappa轻型多肽基因增强子的核因子）的突变与多种临床症状有关，包括淋巴结病，脾肿大，肝肿大，自身免疫性溶血性贫血，关节痛，反复呼吸道感染和术后坏死性蜂窝织炎。

案例介绍

我们描述了一个47岁的男性患者的病例，该患者在由牙医进行粘膜下脓肿切开手术后出现了深层坏死性蜂窝织炎。外科手术导致了巨大的进步。神经性脓皮病（PG）在临床上得到了诊断，并在组织病理学上得到了证实。高剂量皮质类固醇和静脉注射免疫球蛋白（IVIG）可以显着改善伤口愈合。迄今为止，免疫介导的炎症事件不仅影响皮肤，而且还影响多个内部器官，即心脏，肺和肠。NFKB1所有编码外显子的测序揭示在外显子23中杂合的1bp缺失，预测从密码子Ala891开始移码，并导致随后在新阅读框中第6位的终止密码子：NM_003998.4：c.2671del。p。（Ala891Glnfs * 6）急性发作总是成功用皮质类固醇，IVIG和伴随的抗生素治疗。为防止病情进一步恶化，患者每月接受一次IVIG，低剂量皮质类固醇和甲氨蝶呤。

结论

这是第一例复发性坏死性蜂窝织炎并由免疫介导的多器官受累（心脏，肺，肠）的患者，该患者在NFKB1中携带新的移码突变c.2671del（p.Ala891Glnfs * 6），用IVIG有效治疗，剂量皮质类固醇和甲氨蝶呤。