Pediatric Ambulatory Unit, Soroka University Medical Center, Rager Avenue, Beer Sheva, Israel.
The Primary Immunodeficiency Research Laboratory, Soroka University Medical Center, Beer Sheva, Israel.
Immunol Res. 2022 Dec;70(6):775-780. doi: 10.1007/s12026-022-09305-9. Epub 2022 Jul 1.
Tricho-hepato-enteric syndrome (THES) (OMIM #222,470) is a rare autosomal recessive syndromic enteropathy whose primary manifestations are dysmorphism, intractable diarrhea, failure to thrive, hair abnormalities, liver disease, and immunodeficiency with low serum IgG concentrations. THES is caused by mutations of either Tetratricopeptide Repeat Domain 37 (TTC37) or Ski2 like RNA Helicase (SKIV2L), genes that encode two components of the human SKI complex. Here, we report a patient with a TTC37 homozygous mutation phenotypically typical for tricho-hepato-enteric syndrome in whom extremely elevated IgM with low IgG was present at the time of diagnosis. These manifestations were not previously described in THES patients and this raised our index of suspicion towards "atypical" hyper IgM syndrome. Although the pathogenesis of immunoglobulin production dysfunction in THES is still elusive, this disorder should be considered in the differential diagnosis in patients with elevated IgM and syndromic features.
毛发-肝-肠综合征（THES）（OMIM#222,470）是一种罕见的常染色体隐性综合征性肠病，其主要表现为畸形、难治性腹泻、生长不良、毛发异常、肝病和免疫缺陷伴低血清 IgG 浓度。THES 是由 Tetratricopeptide Repeat Domain 37（TTC37）或 Ski2 样 RNA 解旋酶（SKIV2L）基因突变引起的，这两个基因编码人类 SKI 复合物的两个成分。在这里，我们报告了一名 TTC37 纯合突变患者，其表型在毛发-肝-肠综合征中具有典型特征，在诊断时存在极高的 IgM 和低 IgG。这些表现以前在 THES 患者中没有描述过，这引起了我们对“非典型”高 IgM 综合征的怀疑。尽管 THES 中免疫球蛋白产生功能障碍的发病机制仍不清楚，但在出现高 IgM 和综合征特征的患者中，应考虑该疾病作为鉴别诊断。
