SCIENTIFIC BACKGROUND

ELANE, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, NOD2, PSMB8, PSTPIP1, TMEM173, TNFRSF1A

Category:

Scientific Background

Fever is a common symptom in childhood, although it is not always due to a common infection. If infections, autoimmune and malignant diseases have been excluded, a congenital/hereditary periodic fever syndrome (HPF) may be present. HPF syndromes belong to the autoinflammatory diseases that are caused by defective regulation of the innate immune response. HPF syndromes are characterized by recurrent fever attacks accompanied by a systemic inflammatory reaction (elevated CRP and serum amyloid protein A), which particularly affects the skin, mucous membranes, serous membranes and joints and can lead to secondary amyloidosis in some diseases. Since clarifying the differential diagnostic is often difficult due to the similarity and variability of the symptoms, genetic diagnostics using NGS is one way of finding the cause.

 

References

Gattorno et al. 2019, Ann Rheum Dis 78:1025 / Martorana et al. 2017, Front Immunol 8:344 / ter Haar et al. 2015, Ann Rheum Dis 74:1636 / Federici and Gattorno 2014, Best Pract Res Clin Rheumatol 28:263 / Grumbt (Bangol) et al. 2011, Kinderärztliche Praxis 82:232 / Shinar et al. 2012, Ann Rheum Dis 71:1599

GENES

ELANE, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, NOD2, PSMB8, PSTPIP1, TMEM173, TNFRSF1A

ASSOCIATED TESTS

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