Table 1 Distribution of PID cases registered in first primary immunodeficiency biobank in Iran according to IUIS classification, rate of consanguinity, family history of PID, socioeconomic status, age at onset and diagnosis and diagnosis delay

CID with syndromic/associated feature

19 (9.6%)

78.9%

21%

83.3%

16

23.1%

5.6%

94.4%

2.5 (0.1–9)

7.1 (0.5–21)

3.8 (0.5–16)

 AT

8

 WAS

2

 HIES

7

 DiGeorge anomaly

1

 Comel–Netherton syndrome

1

CID

12 (6%)

66.6%

33.3%

75%

83.3%

0%

100%

2 (0.3–0.5)

7.4 (1–15)

5.4 (0.6–12)

 SCID

2

9

 ADA def

3

 MST1 def

3

 MHC II def

1

 CD40 def

2

Ab deficiency

50 (25.4%)

76%

24%

64%

32

44%

4%

96%

5.3 (0.1–31)

11 (1–51)

5.6 (0.6–46)

 CVID

20

 HIGM

2

 THI

1

 Bruton

10

  BTK deficiency

3

 CD-40 ligand def

1

 SIgAD

3

 NFKB2 def

1

 SADNI

12

Congenital defect of Phagocytosis

47 (23.8%)

51%

48.9%

63.8%

30

38.3%

12.7%

87.2%

3 (0.1–30)

7.9 (1–31)

5 (0.5–23)

 CGD

14

 MSMD

12

 Cyclic neutropenia

8

 Severe congenital neutropenia

7

 LAD

7

Innate immunity defect

CMC

13 (6.6%)

53.8%

46.2%

55.6% 7

80%

0%

100%

5.5 (0.3–20)

12.6 (2–26)

7.1 (1–19)

Autoinflammatory

13 (6.6%)

61.5%

38.5%

46.1%6

69.2%

15.4%

92.3%

5.5 (1–10)

11.7 (4–27)

6.2 (1–22)

 FMF

8

Disease of immune dysregulation

7 (3.5%)

42.9%

57.1%

50%

40%

0%

100%

6 (2–13)

11.1 (4–19)

5.1 (2–12)

 IPEX

2

 APECED

2

 Chediack Higashi

3

Complement deficiency

C1 inhibitor deficiency

3 (1.5%)

33.3%

66.6%

33.3% 1

0%

0%

100%

5.5 (5–6)

8.5 (8–9)

3 (3–3)

Unknown

34 (17.2%)

55.9%

44.1%

78.1% 25

62.1%

6.5%

93.5%

3.7 (0.1–12)

–

–

Total/average

197 (100%)

121 (61.4%)

76 (38.6%)

71% 122

48.9%

6.7%

93.6%

4.0 (0.1–31)

9.6 (0.5–51)

5.5 (0.5–46)