. 2018 Apr 9;10(3):285–286. doi: 10.4168/aair.2018.10.3.285

Table. Clinical and genetic information of the patients.

Patients' number	Gender	Age (yr)	C1-INHa (g/L)	C4 (g/L)	Manifestations	Mutations	Molecular consequence	mRNA level^*
A1	Male	33	0.09	0.061	UAE (2–3 episodes/year), extremities	c.1328A<G	p.H443R	0.51
A1	Male	33	0.09	0.061	UAE (2–3 episodes/year), extremities	c.167T<C	SNP	0.51
A2	Female	11	0.1	0.081	Twice hands edema	c.1328A<G	p.H443R	0.76
B1	Female	41	0.06	0.05	UAE (once per month), face	c.953C<G	p.S318×	0.5
B1	Female	41	0.06	0.05	UAE (once per month), face	c.49G<A	p.G17R	0.5
B2	Female	31	0.04	0.018	Hands edema during pregnancy, face swelling after head trauma	c.953C<G	p.S318×	8.13

C1-INHa, C1 esterase inhibitor antigen level; UAE, upper airway edema.

^*C1-INH mRNA relative quantity by real-time polymerase chain reaction.