Table 1.

Epidemiology and genetics of rare recently recognized monogenic autoinflammatory diseases

Year of gene discovery	Disease*		N patients**	M/F ratio	Ethnicity***	Ref	Mode of inheritance	Gene****		Chromosome location	Most frequent mutation
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

* Commonly used disease names as defined in Table  2 ** Genetically confirmed. *** “Family” refers to multiplex families; “Case” refers to sporadic patients **** Approved HUGO.

NA: Not assigned yet. ND: Not determined.