Table 1 Epidemiology and genetics of rare recently recognized monogenic autoinflammatory diseases

2008

H Syndrome

Histiocytosis lymphadenopathy plus syndrome

4

2/2

1 Indian case

12

Recessive

SLC29A3

Solute Carrier Family

10q22.1

ND

1 Pakistani case

13

1 Morocan case

10

29 (Nucleoside Transporter), Member 3

1 Tunisian case

11

2008

NAPS12

NLRP12 Associated Periodic Syndrome

19

13/6

2 Guadeloupean families

18

Dominant

NLRP12

NLR pyrin domain containing protein 12

19q43.42

c.1054C>T, p.Arg352Cys

17

1 Italian family

58

6 Eastern-European cases

16

1 Armenian case

16

1 Italian case

9

1 Guadeloupean case

9

1 Irish case

2009

DIRA

Deficiency of Interleukin 1 Receptor Antagonist

17

9/8

1 Turkish family

23

Recessive

IL1RN

Interleukin 1

2q13

c.-64_1696del, p.IL1F9_IL1RNdel

1 Lebanese

22

receptor antagonist

family

22

2 Dutch families

22

c.213_227del, p.Asp72_Ile76del

1 Dutch case

22

1 Canadian case

22,27

2 Puerto-Rican cases

25

2 Brazilian cases

24,26

2 Unknown

3 Dutch,

1 Lebanese,

1 Turkish,

1 from unknown ancestry

2011

DITRA

Deficiency of Interleukin

66

26/37

3 Tunisian families

30

Recessive

IL36RN

Interleukin 36 receptor antagonist

2q13

c.80C>T, p.Leu27Pro

1 Algerian family

9

36 Receptor Antagonist

19 European cases

32,35,37

c.338C>T, p.Ser113Leu

10 Asian cases

35

c.28C>T, p.Arg10*

6 Tunisian cases

30

6 German cases

36

3 Japanese cases

33,34

1 Spanish case

9

1 Turkish case

36

1 Iraqi case

36

1 Russian case

37

2012

PSORS2

Psoriasis susceptibility 2

45

24/21

1 European family

42

Dominant 

CARD14 

Caspase recruitment domain-containing protein 14

17q25.3

c.349G>A, p.Gly117Ser

1 Taiwanese family

42

1 Tunisian family

43

3 German cases

36

PRP

Pityriasis Rubra Pilaris

17

9/8

4 Israeli families

41

2012

DSAP

Disseminated Superficial Actinic Porokeratosis

>45

21/16/ND

20 Chinese families,

48.49

Dominant

MVK

Mevalonate Kinase

12q24

C.604G>A

p.Gly202Arg

6 Chinese cases

2010

ALDD (JMP, NNS, CANDLE)

Autoinflammation, lipodystrophy, and dermatosis syndrome

40

26/14

22 Japanese families

53,57

Recessive

PSMB8

Proteasome Subunit,

6p21.32

c.224C>T, p.Thr75Met

1 Portuguese family

56

Beta-Type, 8

c.602G>T,

1 Mexican family

56

p.Gly201Val

3 Hispanic cases

54

3 Spanish cases

54

2 American cases

54

1 Japanese case

53

1 Israeli case

54

1 Italian case

9

2012

APLAID

Autoinflammation, Antibody deficiency, and Immune Dysregulation syndrome

2

1/1

1 family of unknown origin

14

Dominant

PLCG2

Phospholipase C, gamma 2

16q23.3

ND

2012

NA

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

3

1/2

1 French family

15

Recessive

RBCK1

RANBP-Type and C3HC4-Type Zinc Finger-Containing 1

20p13

ND

1 Italian case