RT Book, Section
A1 Chinn, Ivan K.
A2 Kline, Mark W.
SR Print(0)
ID 1182931603
T1 Primary Immunodeficiency Diseases
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182931603
RD 2024/04/19
AB Primary  immunodeficiency  diseases  (PIDs)  encompass  a  spectrum  of  conditions  that  result  from  more  than  300  congenital  defects  of  the  immune  system.  These  intrinsic  molecular  changes  alter  the  development  or  function  of  the  immune  system,  leading  to  increased  susceptibility  to  infections,  neoplasia,  autoinflammation,  and  autoimmunity.  PIDs  occur  more  commonly  than  often  perceived,  existing  at  an  estimated  prevalence  of  1  in  every  1200  individuals  in  the  United  States.  Higher  incidence  and  prevalence  can  be  expected  in  parts  of  the  world  with  genetically  homogenous  populations  or  consanguinity.  The  different  PIDs  are  established  by  the  International  Union  of  Immunological  Societies  (IUIS)  and  comprise  8  categories,  plus  an  additional  category  for  PID  phenocopies,  covering  essentially  all  aspects  of  immune  cell  biology  and  immune  function.  This  chapter  will  review  distinguishing  features  of  7  of  the  8  categories,  leaving  complement  deficiencies  for  discussion  in  a  separate  chapter.