RT Book, Section
A1 Lichtman, Marshall A.
A1 Kaushansky, Kenneth
A1 Prchal, Josef T.
A1 Levi, Marcel M.
A1 Burns, Linda J.
A1 Linch, David C.
SR Print(0)
ID 1189334986
T1 Primary Immunodeficiency Syndrome
T2 Williams Manual of Hematology, 10e
YR 2022
FD 2022
PB McGraw-Hill Education
PP New York, NY
SN 9781264269204
LK hemonc.mhmedical.com/content.aspx?aid=1189334986
RD 2024/04/24
AB Primary  immune  deficiency  diseases  (PIDDs)  are  characterized  by  an  increased  susceptibility  to  infections,  often  associated  with  autoimmunity  and  inflammation,  and  an  increased  risk  of  malignancies  because  of  impaired  immune  homeostasis  and  surveillance.Clinical  presentation  varies  depending  on  the  nature  of  the  immune  defect.  The  principal  clinical  features  of  PIDDs  are  listed  in  Table  51–1.With  the  exception  of  immunoglobulin  (Ig)  A  deficiency  and  DiGeorge  syndrome,  PIDDs  are  generally  rare,  with  a  prevalence  of  approximately  1  in  10,000  to  50,000  individuals.Most  forms  follow  Mendelian  inheritance  and  present  in  childhood;  however,  some,  such  as  common  immunodeficiency,  have  a  multifactorial  origin  and  appear  later  in  life.The  diagnostic  approach  is  based  on  a  detailed  family  and  clinical  history,  physical  examination,  and  appropriate  laboratory  tests.  Laboratory  results  should  be  compared  with  age-matched  control  values  because  white  blood  cell  counts,  lymphocyte  subsets,  complement  components,  Ig  levels,  and  antibody  production  (especially  to  polysaccharide  antigens)  undergo  significant  changes  and  progressive  maturation  in  the  first  years  of  life.Recognition  of  PIDDs  is  essential  to  start  optimal  therapies  at  an  early  age.