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Neutrophilic dermatoses and autoinflammatory diseases with skin involvement—innate immune disorders

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Abstract

Neutrophilic dermatoses (NDs) such as Sweet’s syndrome and pyoderma gangrenosum were first described more than 50 years ago and grouped based on their clinical features combined with the typical, neutrophil-rich cutaneous inflammation. In contrast, the recently identified autoinflammatory diseases (ADs) that are also associated with neutrophil granulocyte infiltration of the skin were first characterized based on their genetic architecture. Though both the older ND and the newer AD encompass distinct conditions, they can be seen as parts of a spectrum of innate inflammation. Both groups of diseases show so many overlapping clinical, pathogenetic, histologic, and genetic features that together they should likely be considered as innate immune disorders.

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Abbreviations

ACP5 :

Acid phosphatase 5, tartrate resistant

ADAR1 :

Adenosine deaminase, RNA-specific

AP1S3 :

Adaptor-related protein complex 1, sigma 3 subunit

CARD14 :

Caspase recruitment domain family, member 14

CARD15 :

Caspase recruitment domain family, member 15

CD2BP1 :

CD2-binding protein 1

CECR1 :

Cat eye syndrome chromosome region, candidate 1

IFIH1 :

Interferon induced with helicase C domain 1

IL1RN :

Interleukin-1 receptor antagonist

IL36RN :

Interleukin-36 receptor antagonist

LPIN2 :

Lipin 2

Lyn :

v-yes-1 Yamaguchi sarcoma viral related oncogene homolog

MEFV :

Mediterranean fever

MVK :

Mevalonate kinase

NLRC4 :

NLR family, CARD domain containing 4

NLRP3 :

NOD-like receptor pyrin domain containing 3

NOD2 :

Nucleotide-binding oligomerization domain containing 2

PSMB8 :

Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)

PTPN6 :

Protein tyrosine phosphatase, non-receptor type 6

RNASEH2A :

Ribonuclease H2, subunit A

RNASEH2B :

Ribonuclease H2, subunit B

RNASEH2C :

Ribonuclease H2, subunit C

SAMHD1 :

SAM domain and HD domain 1

SH3BP2 :

SH3-domain binding protein 2

SHP1 :

Nuclear receptor subfamily 0, group B, member 2

TMEM173 :

Transmembrane protein 173

TNFRSF1A :

Tumor necrosis factor receptor superfamily, member 1A

TREX1 :

Three prime repair exonuclease 1

TRNT1 :

tRNA nucleotidyl transferase, CCA-adding, 1

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Navarini, A.A., Satoh, T.K. & French, L.E. Neutrophilic dermatoses and autoinflammatory diseases with skin involvement—innate immune disorders . Semin Immunopathol 38, 45–56 (2016). https://doi.org/10.1007/s00281-015-0549-6

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