Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain

Although the majority of monogenic defects underlying primary immunodeficiency are microlesions, large lesions like large deletions are rare and constitute less than 10% of these patients. The immunoglobulin heavy chain (IGH) locus is one of the common regions for such genetic alterations. This study describes a rare case of autosomal recessive agammaglobulinemia with a homozygous large deletion in chromosome 14q32.33 (106067756-106237742) immunoglobulin heavy chain clusters with an unusual and severe skin infection and disseminated intravascular coagulopathy.

尽管原发性免疫缺陷所涉及的单基因缺陷大多数是微小病变，但像大片段缺失这样的大病变很罕见，在这些患者中所占比例不到10%。免疫球蛋白重链（IGH）基因座是此类基因改变的常见区域之一。本研究描述了一个罕见的常染色体隐性无丙种球蛋白血症病例，该病例在染色体14q32.33（106067756 - 106237742）的免疫球蛋白重链簇上存在纯合大片段缺失，并伴有不寻常的严重皮肤感染和弥散性血管内凝血。