Table 2.

Clinical features of APDS2, SMS, and reported patient.

	APDS2	SMS	Case report patient
Infectious complications
Upper respiratory infections	X		X
Chronic otitis	X	X	X
Pneumonia	X		X
Sepsis	X*		X
Urinary tract infections/pyelonephritis			X
Adenopathy
Lymphadenopathy	X		X
Splenomegaly	X		X
Hepatomegaly	X	X	X
Neurological/behavioral
Behavioral problems	X	X	X
Neurodevelopmental delay	X	X	X
Variable mental retardation		X	X
Speech delay	X	X	X
Sleep disturbance		X	X
Skeletal/craniofacial
Short stature	X	X	X
Ocular abnormalities
Strabismus		X	X
Other features
Vascular abnormalities (moyamoya)		X	X
Renal/urinary tract abnormalities		X	X

^*Two reports.