X-linked hyper IgM Syndrome (XLHIGM), the most frequent form of the Hyper IgM syndromes is a primary immune deficiency resulting from a mutation in the CD40 ligand gene (CD40LG). We analyzed the clinical and laboratory features of ten patients with XLHIGM, who were diagnosed at a tertiary care hospital in North India. Most common infections were sinopulmonary infections (80%) and diarrhea (50%). Sclerosing cholangitis and necrotising fasciitis were noted in one patient each. Three novel mutations in CD40LG (c.429_429 delA, p. G144DfsX5; c.500 G > A, p.G167E and c.156 G > C, p.K52 N) were detected. In addition, we found one missense mutation, two splice site mutations and two large deletions, which have been previously reported. Four (4) patients had expired at the time of analysis. We report the first series of XLHIGM from North India where we have documented unique features such as pulmonary alveolar proteinosis and infections with Mycobacterium sp.

中文翻译：

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X连锁性高IgM综合征的临床和分子特征-来自印度北部的经验。

X连锁高IgM综合征（XLHIGM）是高IgM综合征的最常见形式，是由CD40配体基因（CD40LG）突变引起的原发性免疫缺陷。我们分析了十名XLHIGM患者的临床和实验室特征，这些患者是在印度北部的一家三级医院诊断出来的。最常见的感染是肺肺感染（80％）和腹泻（50％）。分别在一名患者中发现了硬化性胆管炎和坏死性筋膜炎。检测到CD40LG中的三个新突变（c.429_429 delA，第G144DfsX5页； c.500 G> A，第G167E页； c.156 G> C，第K52 N页）。此外，我们发现了一个错义突变，两个剪接位点突变和两个大缺失，这些以前已经报道过。分析时四（4）名患者已过期。