A diagnosis can only be definitively made after genetic testing to look for a mutation in the<unk>  gene. However, it can be suspected with a high IgE level and eosinophilia. Other suggestive laboratory findings include decreased numbers of B cells, T cells, and NK cells; and hypergammaglobulinemia. It can be distinguished from autosomal dominant hyper-IgE (STAT3 deficiency) because people with<unk>  have low levels of IgM and an impaired secondary immune response. IgG and IgA levels are usually normal to high. It can be distinguished from the similar X-linked Wiskott–Aldrich syndrome by the presence of thrombocytopenia and the consequent bloody diarrhea, as well as its pattern of inheritance. WHIM syndrome, caused by a mutation in CXCR4, is associated with similar chronic cutaneous viral infections.
DOCK8 deficiency
ZAP70 deficiency
PMM2 deficiency
WNT4 deficiency
ZC4H2 deficiency
NGLY1 deficiency
Janus kinase 3 deficiency
MECP2 duplication syndrome