Elevated IgE is the hallmark of<unk> . An IgE level greater than 2,000 IU/mL is often considered diagnostic. However, patients younger than 6 months of age may have very low to non-detectable IgE levels. Eosinophilia is also a common finding with greater than 90% of patients having eosinophil elevations greater than two standard deviations above the normal mean. Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects. Types<unk>  often appears early in life with recurrent staphylococcal and candidal infections, pneumonias, and eczematoid skin. *Autosomal dominant<unk>  caused by STAT3 defects, called Job Syndrome, have characteristic facial, dental, and skeletal abnormalities. Patients with STAT3<unk>  may have either delay of or failure in shedding of primary teeth. The characteristic facial features are usually set by age 16. These include facial asymmetry, a prominent forehead, deep-set eyes, a broad nasal bridge, a wide, fleshy nasal tip, and mild prognathism. Additionally, facial skin is rough with prominent pores. Finally, some patients with STAT3<unk>  have scoliosis, as well as bones that fracture easily. *Autosomal recessive
Hyperimmunoglobulin E syndrome
Anti-IgLON5 disease
Wiskott–Aldrich syndrome
MOG antibody disease
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 5
TNF receptor associated periodic syndrome
Hyper-IgM syndrome type 4