Table 1 Overview of the most relevant PIDs, their OMIM number, their affected gene, the locus of the mutations, and the mutations themselves

CNKD1

614172

GATA2

3q21.3

c.1061C>T

IMD54

609981

MCM4

8q11.21

71-2A-G

DKCB

608833

RTEL1

20q13.33

c.3791G>A

IMD55

610608

GINS1

20p11.21

c.247C-T

IMD32A-32B

601565

IRF8

16q24.1

T80A

IMD20

615707

FCGR3A

1q23.3

c.230 T-A

FHL2

267700

PRF1

9q21.3-q22

c.1122G>A

FHL4

603552

STX11

6q24.2

c.173T>C

GS2

607624

RAB27A

15q21.3

c.582T>G

WAS

301000

WAS

Xp11.23-p11.22

c.3416>A

CHS

214500

LYST

1q42.1-q42.2

c.1902dupA

APDS

615513

PIK3CD

1p36.22

c.3061G>A

APDS-2

616005

PIK3R1

5q13.1

c.1425+1G>C,T

X-SCID

300400

IL2RG

Xq13.1

K97X

ADA-SCID

102700

ADA

20q13.12

R156H

X-CGD

306400

CYBB

Xp21.1-p11.4

P415H