IllnessFever syndromes, hereditary periodic; differential diagnosis

NGS +

[Sanger]

Congenital periodic fever syndromes are hereditary diseases characterised by repeated fever and other symptoms with no other cause. Most patients develop the symptoms during childhood; in less than 10% of cases, they only appear after the age of 18. This group of diseases includes familial Mediterranean fever, hyper-IgD syndrome, Tumor Necrosis Factor (TNF)-receptor associated periodic fever syndromes, cryopyrinopathies such as Muckle-Wells syndrome, M. Behcet (HLA association), transthyretin-associated amyloidosis, neonatal multisystemic inflammatory disease (NOMID), PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne) and PFAPA syndrome (periodic fever, aphthae, stomatitis, pharyngitis and cervical lymphadenitis; genetic components unknown). M. Behcet and PFAPA syndrome are multifactorial, the other diseases are covered by the genes studied in the panel. Mutation detection rates vary depending on the population studied; an inconspicuous genetic finding does not exclude hereditary (co-)caused periodic fever syndromes.

Reference: https://www.msdmanuals.com/de-de/profi/pädiatrie/angeborene-periodische-fiebersyndrome/angeborene-periodische-fiebersyndrome-im-überblick?query=Überblick about hereditary periodic fever syndromes

• Alias: Periodic fever syndromes
• Alias: Periodic fever, familial
• Allelic: Palmoplantar carcinoma, multiple self-healing (NLRP1)
• Allelic: Respiratory papillomatosis, juvenile recurrent, congenital (NLRP1)
• Afibrinogenemia, congenital (FGA)
• Amyloidosis, 3 or more types (APOA1)
• Amyloidosis, Finnish type (GSN)
• Amyloidosis, familial visceral (FGA)
• Amyloidosis, hereditary, transthyretin-related (TTR)
• Amyloidosis, primary localized cutaneous, 1 (OSMR)
• Amyloidosis, renal (LYZ)
• ApoA-I and apoC-III deficiency, combined (APOA1)
• Apolipoprotein A-II deficiency (APOA2)
• Apolipoprotein C-III deficiency (APOC3)
• Autoinflammation with arthritis and dyskeratosis (NLRP1)
• Autoinflammation with infantile enterocolitis (NLRC4)
• Autoinflammation, antibody deficiency + immune dysregulation syndrome (PLCG2)
• Autoinflammation, panniculitis + dermatosis syndrome (OTULIN)
• Autoinflammatory syndrome, familial, Behcet-like (TNFAIP3)
• Blau syndrome (NOD2)
• CINCA syndrome (NLRP3)
• Carpal tunnel syndrome, familial (TTR)
• Deafness, AD 34, with/-out inflammation (NLRP3)
• Dysfibrinogenemia, congenital (FGA)
• Dystransthyretinemic hyperthyroxinemia (TTR)
• Familial Mediterranean fever, AD, AR (MEFV)
• Familial cold autoinflammatory syndrome 2 (NLRP12)
• Familial cold autoinflammatory syndrome 3 (PLCG2)
• Familial cold autoinflammatory syndrome 4 (NLRC4)
• Familial cold inflammatory syndrome 1 (NLRP3)
• Gastric cancer risk after H. pylori infection (IL1RN)
• Hyper-IgD syndrome (MVK)
• Hypercholesterolemia, familial, modifier of (APOA2)
• Hyperlipoproteinemia, type Ib (APOC2)
• Hypoalphalipoproteinemia, primary, 2, with/-out corneal clouding (APOA1)
• Hypodysfibrinogenemia, congenital (FGA)
• Inflammatory bowel disease 1, Crohn disease (NOD2)
• Interleukin 1 receptor antagonist deficiency (IL1RN)
• Keratoendothelitis fugax hereditaria (NLRP3)
• Majeed syndrome (LPIN2)
• Mevalonic aciduria (MVK)
• Microvascular complications of diabetes 4 (IL1RN)
• Muckle-Wells syndrome (NLRp3)
• Multiple sclerosis, susceptibility to, 5 (TNFRSF1A)
• Neutropenia, cyclic (ELANE)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutrophilic dermatosis, acute febrile (MEFV)
• Periodic fever, familial (TNFRSF1A)
• Periodic fever, immunodeficiency + thrombocytopenia syndrome (WDR1)
• Porokeratosis 3, multiple types (MVK)
• Proteasome-associated autoinflammatory syndrome 1 and digenic forms (PSMB8)
• Psoriasis 14, pustular (IL36RN)
• Pyogenic sterile arthritis, pyoderma gangrenosum, + acne (PSTPIP1)
• STING-associated vasculopathy, infantile-onset (TMEM173)
• Vitiligo-associated multiple autoimmune disease susceptibility 1 (NLRP1)
• Yao syndrome (NOD2)