ERBIN and phosphoglucomutase 3 (PGM3) mutations both lead to rare primary atopic disorders characterized by allergic disease and connective tissue abnormalities, though each disorder has its own rather unique pattern of multisystem presentations. Pathway studies show how ERBIN mutations allow for enhanced TGFb signaling, and prevent STAT3 from negative-regulating TGFb signaling. This likely explains many elements of clinical overlap between disorders of STAT3 and TGFb signaling. The excessive TGFb signaling leading to increased IL-4 receptor expression also provides the rationale for precision-based therapy blocking the IL-4 receptor to treat the atopic disease. The mechanism by which PGM3 deficiency leads to atopic phenotypes is not well understood, nor is the broad variability in disease penetrance and expressivity, though preliminary studies suggest an overlap with IL-6 receptor signaling defects.

ERBIN 和磷酸葡萄糖变位酶3 (PGM3) 突变都会导致罕见的原发性特应性疾病，其特征是过敏性疾病和结缔组织异常，尽管每种疾病都有其相当独特的多系统表现模式。通路研究表明 ERBIN 突变如何增强 TGFb 信号传导，并阻止STAT3 负调节 TGFb 信号传导。这可能解释了 STAT3 和 TGFb 信号传导疾病之间临床重叠的许多因素。过度的 TGFb 信号传导导致 IL-4 受体表达增加，也为阻断 IL-4 受体以治疗特应性疾病的精准疗法提供了理论依据。PGM3 缺乏导致特应性表型的机制尚不清楚，疾病外显率和表达性的广泛变异性也不清楚，尽管初步研究表明与 IL-6 受体信号传导缺陷有重叠。