Table 3.

Laboratory abnormalities in monogenic disorders

Investigation	Genetic disorder
Elevated IgE/eosinophilia	IPEX, WAS, IKBKG, DOCK8
Immunoglobulin profile	LBRA, CVID, agammaglobulinemia
Lymphocyte subset analysis	CVID, agammaglobulinemia
DHR test	CGD
Flow cytometric analysis of XIAP expression by NK cells and lymphocytes	XIAP
Flow cytometric analysis of FOXP3 expression by CD4 T‐cells	IPEX

CGD, chronic granulomatous disease; CVID, common variable immunodeficiency; IPEX, immune dysregulation, polyendocrinopathy, enteropathy, X‐linked; WAS, Wiskott–Aldrich syndrome; XIAP, X‐linked inactivator of apoptosis.