IKBKB immune deficiency is a rare but life-threatening primary immunodeficiency disorder, involving activation defects in adaptive and innate immunity. We present sixteen cases of a homozygous IKBKB mutation (c.1292dupG) in infants characterized by early-onset bacterial, viral, fungal and Mycobacterial infections. In most cases, T- and B-cells were quantitatively normal, but phenotypically naïve, with severe hypogammaglobulinemia. T-cell receptor excision circles were normal, meaning newborn screening by TREC analysis would miss IKBKB cases. Although IKBKB immune deficiency does not meet traditional laboratory based definitions for SCID, this combined immune deficiency appears to be at least as profound. Urgent HSCT, performed in eight patients, remains the only known curative therapy, although only three patients are survivors. Ongoing infections after transplant remain a concern, and may be due to combinations of poor social determinants of health, secondary graft failure, and failure of HSCT to replace non-hematopoietic cells important in immune function and dependent upon IKK/NF-κB pathways.

中文翻译：

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IKBKB免疫缺陷的临床表现，免疫学特征和造血干细胞移植结局。

IKBKB免疫缺陷是一种罕见但危及生命的原发性免疫缺陷疾病，涉及适应性免疫和先天性免疫中的激活缺陷。我们目前以特征为早发性细菌，病毒，真菌和分枝杆菌感染的婴儿为例，显示了16例纯合IKBKB突变（c.1292dupG）。在大多数情况下，T细胞和B细胞在数量上是正常的，但从表型上来说是幼稚的，伴有严重的低血球蛋白血症。T细胞受体切除环正常，这意味着通过TREC分析进行新生儿筛查会漏掉IKBKB病例。尽管IKBKB免疫缺陷不符合SCID的传统实验室定义，但这种合并的免疫缺陷似乎至少同样深刻。尽管只有三名患者是幸存者，但在八名患者中进行的紧急HSCT仍是唯一已知的治疗方法。