Table 2:

comparison of phenotypes by mutation type

	Null	Truncation	LOF	Transient GOF	Constitutive GOF
WAS disease presentation	Severe WAS	Severe WAS	Mild WAS, may progress to severe	NR	X-linked neutropenia
Specific phenotypes	Thrombocytopenia, small platelet volume, severe eczema, susceptibility to pyogenic infections, increased incidence of autoimmune disease, and cancer		Thrombocytopenia ± mild eczema		Severe neutropenia, monocytopenia, normal platelet volume, recurrent bacterial infections, myelodysplasia
RAC2 disease presentation	CVID	NR	Neonatal LAD-like	CVID	Neonatal SCID, reticular dysgenesis
Specific phenotypes	Decreased T cells, decreased B cells, decreased TRECs, recurrent respiratory infections		Neutrophiia, severe bacterial infections, poor wound healing, decreased T cells, decreased TRECs, decreased neutrophil chemotaxis, decreased superoxide to fMLF	Decreased T cells, decreased B cells, decreased TRECs, increased superoxide to fMLF, impaired chemotaxis, increased F-actin	Severe pancytopenia, hypoplastic bone marrow, sepsis, altered mitochondrial function, increased superoxide at baseline, and after PMA

NR, not reported.