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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPFAPA syndrome, predisposition/association; differential diagnosis


Short information

A curated panel containing 5 genes for the comprehensive analysis of the suspected PFAPA syndrome, predisposition/association and differential diagnosis

Number of genes
4 Accredited laboratory test
Examined sequence length
8,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

Periodic fever, aphthae (stomatitis), pharyngitis, adenopathy (PFAPA) syndrome is an auto-inflammatory syndrome with the clinical signs whose initial letters make up the acronym. There is no known monogenic basis for PFAPA (also known as Marshall syndrome with periodic fever). It mostly occurs in early childhood with regularly recurring acute episodes. The periodic fever episodes in PFAPA syndrome are often indistinguishable from those in Mediterranean fever, but they often persist in the second decade of life and are also attributed to the Behcet spectrum disorders. Molecular examination of the MEFV gene and other genes associated with periodic fever, as well as close follow-up (with or without treatment) may be necessary to make the correct diagnosis.

(genes: ###)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1227/



  • Def.: Periodic Fever, Aphthous stomatitis, Pharyngitis + Adenopathy syndrome. PFAPA
  • Alias: Marshall syndrome with periodic fever
  • Allelic: Deafness, AD 34, with/-out inflammation (NLRP3)
  • Allelic: Graft-versus-host disease, protection against (IL10)
  • Allelic: HIV-1, susceptibility to (IL10)
  • Allelic: Keratoendothelitis fugax hereditaria (NLRP3)
  • Allelic: Mevalonic aciduria (MVK)
  • Allelic: Muckle-Wells syndrome (NLRP3)
  • Allelic: Multiple sclerosis, susceptibility to, 5 (TNFRSF1A)
  • Allelic: Neutropenia, severe congenital 1, AD (ELANE)
  • Allelic: Porokeratosis 3, multiple types (MVK)
  • Allelic: Rheumatoid arthritis, progression of (IL10)
  • CINCA [Chronic Infantile Neurologic Cutaneous Articular] syndrome (NLRP3)
  • Familial Mediterranean fever, AD, AR (MEFV)
  • Familial cold inflammatory syndrome 1 (NLRP3)
  • Hyper-IgD syndrome (MVK)
  • Neutropenia, cyclic (ELANE)
  • Neutrophilic dermatosis, acute febrile (MEFV)
  • Periodic fever, aphthous stomatitis, pharyngitis + cervical adenitis, PFAPA
  • Periodic fever, familial (TNFRSF1A)
  • Systemic lupus erythematosus, susceptibility to, 11 (STAT4)
  • TRAPS: TNF Receptor-Associated Periodic fever Syndrome, TRAPS (TNFRSF1A)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined