Autoinflammatory diseases: State of the art - 19/02/19

Doi : 10.1016/j.lpm.2018.12.003

Sophie Georgin-Lavialle ^1,^2,^⁎ , Antoine Fayand ¹, François Rodrigues ¹, Claude Bachmeyer ¹, Léa Savey ¹, Gilles Grateau ^1,²
¹ AP–HP, hôpital Tenon, Sorbonne université, service de médecine interne, centre de référence des maladies auto-inflammatoires et des amyloses d’origine inflammatoire (CEREMAIA), 75020 Paris, France
² Assistance publique–Hôpitaux de Paris, hôpital Trousseau, université Pierre-et-Marie-Curie (UPMC)-Paris 6, Inserm UMRS_933, 75012 Paris, France

^⁎Sophie Georgin-Lavialle, Assistance publique–Hôpitaux de Paris, Tenon hospital, Sorbonne Paris université, internal medicine department, 4, rue de la Chine, 75020 Paris, France.Assistance publique–Hôpitaux de Paris, Tenon hospital, Sorbonne Paris université, internal medicine department4, rue de la ChineParis75020France

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Summary

Autoinflammatory diseases are characterized by innate immunity abnormalities. In autoinflammatory diseases (AID), inflammatory blood biomarkers are elevated during crisis without infection and usually without autoantibodies. The first 4 described AID were familial Mediterranean fever, cryopyrin-associated periodic fever syndrome (CAPS) or NLRP3-associated autoinflammatory disease (NRLP3-AID), mevalonate kinase deficiency (MKD) and TNFRSF1A-receptor associated periodic fever syndrome (TRAPS). Since their description 20 years ago, and with the progresses of genetic analysis, many new diseases have been discovered; some with recurrent fever, others with predominant cutaneous symptoms or even immune deficiency. After describing the 4 historical recurrent fevers, some polygenic inflammatory diseases will also be shortly described such as Still disease and periodic fever with adenitis, pharyngitis and aphtous (PFAPA) syndrome. To better explore AID, some key anamnesis features are crucial such as the family tree, the age at onset, crisis length and organs involved in the clinical symptoms. An acute phase response is mandatory in crisis.

In this issue

Editorial.

G. Grateau et al. (France)

Autoinflammatory diseases: state of the art.

S. Georgin-Lavialle et al. (France)

How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?

D.M. Rowczenio et al. (United Kingdom)

Familial Mediterranean fever.

H. Ozdogan et al. (Turkey)

Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome–PFAPA syndrome.

P. Wekell (Sweden)

Glossary

APLAID : Autoinflammation and PLCg2-associated Antibody deficiency and Immune Dysregulation
CAMPS : CARD14-mediated pustular psoriasis=CARD14-associated psoriasis
CANDLE : chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome
CAPS : cryopyrin-associated periodic fever syndrome=NLRP3-associated autoinflammatory disease (NLRP3-AID)
CINCA : Chronic infantile neurological, cutaneous and articular syndrome
DIRA : Deficiency of the IL-1 receptor antagonist
DITRA : Deficiency of the IL-36 receptor antagonist
DUB : deubiquitinase
FCAS : Familial cold autoinflammatory syndrome
FCAS2 : Familial cold autoinflammatory syndrome 2 (NLRP12-associated autoinflammatory disease)
FMF : Familial Mediterranean fever
HA20 : A20 haploinsufficiency
LUBAC : Linear ubiquitin chain assembling complex
MKD : mevalonate kinase deficiency
MWS : Muckle Wells syndrome
NAIAD : NLRP1-associated autoinflammation with arthritis and dyskeratosis
NAID : NOD2-associated autoinflammatory diseases
NLRC4-MAS : NLRC4 associated macrophage activation syndrome
ORAS : Otulin related autoinflammatory syndrome
PAAND : Pyrin-associated autoinflammation with neutrophilic dermatosis
PAID : PSTPIP1-associated autoinflammatory diseases
PAMI : PSTPiP1-Associated Myeloid-related-proteinemia Inflammatory syndrome
PAPA : syndrome pyogenic arthritis, pyoderma gangrenosum and acne
PAPASH : PSTPiP1-associated Pyoderma gangrenosum, Acne and Hidradenitis Suppurativa
PAC : Pyoderma gangrenosum, Acne and ulcerative Colitis
PFAPA : Periodic Fever Aphtous Stomatitis Pharyngitis Adenitis
PFIT : Periodic Fever with Immunodeficiency and Thrombocytopenia
PLAID : PLCg2-associated Antibody deficiency and Immune Dysregulation
SAVI : STING-associated vasculopathy with onset in infancy
SIFD : Sideroblastic anemia with B-cell Immunodeficiency, periodic Fevers and Developmental delay
TNFRSF11A : TNF11α-Receptor associated periodic syndrome
TRAPS : TNF-Receptor associated periodic syndrome

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