RT Book, Section
A1 Bodar, Evelien J.
A1 Simon, Anna
A1 Drenth, Joost P.H.
A2 Shah, Samir S.
SR Print(0)
ID 6913141
T1 Chapter 61. Hereditary Periodic Fever Syndromes
T2 Pediatric Practice: Infectious Disease
YR 2009
FD 2009
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-148924-9
LK accesspediatrics.mhmedical.com/content.aspx?aid=6913141
RD 2024/04/20
AB Hereditary  periodic  fever  syndromes  are  defined  by  the  presence  of  recurrent  incapacitating  episodes  or  fluctuating  degrees  of  fever  and  inflammation  in  the  absence  of  infection.  Unlike  autoimmune  diseases,  hereditary  periodic  fever  syndromes  are  marked  by  the  absence  of  significant  levels  of  autoantibodies  and  autoreactive  T-cells.  As  a  consequence,  the  name  autoinflammatory  syndromes  has  been  advocated  as  a  common  descriptive  denominator  for  this  group  of  rare  disorders.1,2  Since  1997,  ten  of  the  major  syndromes  have  been  linked  to  mutations  in  seven  specific  genes,  facilitating  the  specific  diagnosis  of  these  conditions  rather  than  relegating  them  to  diagnoses  of  exclusion3  (Table  61–1).  The  nomenclature  of  the  various  autoinflammatory  syndromes  is  complicated,  comprising  a  mix  of  syndromes  described  by  various  typical  manifestations  and  syndromes  characterized  by  identification  of  specific  genetic  defects.  Most  terms  originated  from  the  period  preceding  the  discovery  of  the  implicated  genetic  defects.  To  confound  matters  even  more,  most  autoinflammatory  syndromes  are  known  by  more  than  one  name  based  on  personal  and  geographical  preferences.  For  the  purpose  of  this  chapter  we  use  the  most  accepted  terms  as  retained  in  the  literature.