Table 1 Demographic, syndromic presentation and genetic findings of DADA2 in Brazil. Patient’s initial syndromic diagnosis is reported, along with all mutations and status found

P1

F

PAN

Homozygous

Paraná*

c.973-2 A > G (splice acceptor)

P2

F

Evans Syndrome

Compound heterozygous

São Paulo*

c.396_397del p.(His133LeufsTer44);c.563T > C p.(Leu188Pro

P3

M

Recurrent Stroke

Homozygous

São Paulo

c.1358 A > G (p.Y453C)

P4

M

PAN

Homozygous

São Paulo

c.1358 A > G (p.Y453C)

P5

M

Recurrent Stroke

Homozygous

Recife

c.506G > A p.Arg169Gln

P6

M

PAN

Compound heterozygous

Recife

c.1358 A > G (p.Tyr453Cys); c.973-2 A > G (splice acceptor)

P7

M

ALPS-like

Homozygous

São Paulo

c.827T > C p.Phe276Ser

P8

F

ALPS-like

Homozygous

Minas Gerais

c.1358 A > G p.Tyr453Cys

P9

F

PAN

Compound heterozygous

São Paulo

c.139G > C (p.Gly47Arg); c.973-2 A > G (Splice acceptor)

P10

F

APS

Compound heterozygous

Rio Grande do Sul*

p.Gly47Arg (c139G > A) / p.Tyr453Cys (c.1358 A > G)

P11

F

APS

Compound heterozygous

Rio Grande do Sul*

p.Gly47Arg (c139G > A) / p.Tyr453Cys (c.1358 A > G)

P12

F

APS

Compound heterozygous

Rio Grande do Sul*

p.Gly47Arg (c139G > A) / p.Tyr453Cys (c.1358 A > G)

P13

F

Recurrent Stroke

Homozygous

São Paulo

c.973-2 A > G (Splice acceptor)

P14

M

PAN

Homozygous

São Paulo

c.973-2 A > G (Splice acceptor)

P15

M

PAN

Homozygous

São Paulo

c.973-2 A > G (Splice acceptor)

P16

F

CVID

Homozygous

São Paulo

c.973-2 A > G (Splice acceptor)

P17

F

PAN

Compound heterozygous

Rio Grande do Norte

c.973-2 A > G; c.506G > A p.Arg169Gln

P18

F

CVID

Homozygous

São Paulo

c.54delT p.Val19Trhpfs*12