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.