Table 1 Main IEI categories/diseases which FCM improved their rate of diagnosis

CID affecting cellular and humoral immunity: a SCID

T-B−SCID

46

140

b CID less profound than SCID

T-B+SCID

35

78

DOCK8 deficiency

12

55

Omenn syndrome

10

12

MHC class II deficiency

3

22

CD40L deficiency

1

3

CID with syndromic features

WAS

5

30

STAT3

1

3

Immunodeficiencies with predominantly antibodies defect

XLA

14

22

Diseases of immune dysregulation:

LRBA

–

27

CTLA4

–

1

ALPS

4

11

IPEX/IPEX-like

4

33

Congenital defects of phagocytes

CGD

45

205

LAD

10

35

Congenital neutropenia

3

34