Table 2.

Clinical features of rare recently recognized monogenic autoinflammatory diseases

OMIM	ORPHA-CODE	Disease acronyme	Disease extended name*	Synonyms						Age at onset	Key symptoms	Differential diagnosis	Treatment
612373	168569 254707 254712 254723	H Syndrome	Histiocytosis-lymphadenopathy plus syndrome	PHID	Pigmentary Hypertrichosis and non-autoimmune Insulin-dependent Diabetes mellitus	FHC	Faisalabad Histiocytosis	SHML	Sinus Histiocytosis with Massive Lymphadenopathy	Infancy	Histiocytosis	FCAS2	NSAID (IL-1 and TNF blockades not effective)
												FCAS3
												ALDD
												Other causes of insulin-dependent diabetes
611762	247868	FCAS2	Familial Cold Autoinflammatory Syndrome 2	NAPS12	NLRP12 Associated Periodic Syndrome	NLRP12AD	NLRP12-associated disorder			Infancy Childhood Adulthood	Urticaria, fever, myalgia, arthralgia	FCAS1 FCAS3	NSAID (IL-1 blockades not effective)
612852	210115	OMPP	Osteomyelitis, sterile Multifocal, with Periostitis and Pustulosis	DIRA	Deficiency of Interleukin 1 Receptor Antagonist					Neonatal	Neutrophilic pustular dermatosis, periostitis, aseptic multifocal osteomyelitis	PSORP Other dermatologic and infectious conditions	IL1 blockades (NSAID not effective)
614204	247353	PSORP	Pustular Psoriasis, Generalized	DITRA	Deficiency of Interleukin 36 Receptor Antagonist	GPP	Generalized Pustular Psoriasis			Infancy, Childhood, Adulthood	Diffuse erythematous pustular rash, fever, malaise and diffuse pain, systemic inflammation	OMPP Other autoinflammatory diseases	NSAID, Vitamin D3, Acitretin, TNF and IL-1 blockades
602723	NA	PSORS2	Psoriasis susceptibility 2							Variable	Round, well circumscribed erythematous plaques covered by a thick silver scale with a predilection for elbows, knees, scalp, lumbosacral and anogenital regions	Other papulosquamous disorders	Corticosteroids, calcineurin inhibitor, calcipotriene, emollients, keratolytic agents, ultraviolet light, retinoids, methotrexate, cyclosporine, anti-TNF agents
173200	2897	PRP	Pityriasis Rubra Pilaris							Neonatal Early childhood	Small keratotic follicular papules, disseminated salmon-colored scaly plaques surrounding islands of normal skin, diffuse red-orange palmoplantar keratoderma	Phrynoderma (vitamin A deficiency), psoriasis, erythrokeratodermia, other causes of cornification	Emollients, topical corticosteroids, tazarotene, keratolytic agents, calcineurin inhibitor, systemic retinoids, TNFα blocking agents
175900	79152	POROK3	Porokeratosis 3, Disseminated Superficial Actinic Type	DSAP	Disseminated Superficial Actinic Porokeratosis					Adult	UV sensitive, Epidermal cornification, round and brownish lesions	Neoplastic or hyperplastic squamous proliferations	Cryotherapy, topical reagents, electrodessication, laser ablation, photodynamic therapy
256040	2615	ALDD	Autoinflammation, LipoDystrophy, and Dermatosis syndrome	JMP	Joint contractures, muscle atrophy, Microcytic anemia, and Panniculitis-induced lipodystrophy syndrome.	NNS	Nakajo-Nishimura Syndrome	CANDLE	Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature syndrome	Neonatal	Fever, skin rash, panniculitis, lipoatrophy	Still’s disease, CINCA, mucopolysaccharidosis, lupus, dermatomyositis, laminopathies, Aicardi Goutieres syndrome	NSAID, Interferon γ, JAK inhibitors?
614878	324530	APLAID	Autoinflammation, antibody deficiency, and immune dysregulation syndrome							ND	Neutrophilic skin lesions, IBD, recurrent sino pulmonary infections	Other immunodeficiencies, IBD, PLAID	ND
NA	329173	NA	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis							ND	ND	ND	ND

*Approved OMIM; NA Not assigned yet; ND: too few patients to delineate clear criteria. Commonly used disease names are in bold text.

NSAID: nonsteroidal anti-inflammatory drugs.

CINCA: Chronic, Infantile, Neurologic, Cutaneous and Articular syndrome, IBD: inflammatory bowel disease, PLAID: PLCg2-Associated antibody Deficiency.