Introduction
Hyper IgE syndrome (HIES), a primary immunodeficiency disorder with autosomal dominant or recessive inherence patterns characterized by significantly elevated IgE, severe eczema, sinopulmonary infections, and musculoskeletal deformities.1 Multiple variants are identified to contribute to HIES-like disorders: PGM3, TYK2, DOCK8, STAT3, IL6, IL6ST, IL6R, ZNF341, TGFBR1, TGFBR2, SPINK5, CARD11 .2-8 Among the variants, phosphoglucomutase 3 (PGM3 ) gene encodes a glycosylation enzyme in N-glucans biosynthesis that catalyzes the conversion of N-acetylglucosamine-6 to N-acetylglucosamine-1, a step in the production of precursor proteins of both the innate and adaptive immune system. One clinical phenotype ofPGM3 -HIES related diseases resulting in neutropenia, lymphopenia, and progressive bone marrow failure lead to a clinical presentation resembling that of severe combined immunodeficiency (SCID).9-10 Early neurologic consequences include developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.11Eczematous involvement primarily of face and scalp are common during first several weeks of life, and mildly elevated IgE level (< 2000 IU/mL) is typical under 2 years of age in HIES related disorders.2,12 Here we describe a case of a 2-month-old female displaying clinical phenotype of HIES related disease with severe eczematous dermatitis recalcitrant to corticosteroids and achieved nearly complete response from off-label use of dupilumab.