RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164088249
T1 Wiskott-Aldrich Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164088249
RD 2024/04/19
AB This  is  a  congenital  and  life-threatening  medical  immunodeficiency  condition  affecting  mostly  males  due  to  its  X-linked  inheritance.  It  is  characterized  by  severe  eczema,  profound  thrombocytopenia,  immune  deficiency  causing  frequent  infections  as  a  result  of  a  defect  in  both  T-  and  B-cell  function.  Clinically,  affected  individuals  present  for  bloody  diarrhea  and  a  high  incidence  of  autoimmunity  and  malignancy.  Death  frequently  occurs  during  childhood  as  a  result  of  severe  thrombocytopenia  and  bleeding.  The  Wiskott-Aldrich  Syndrome  (WAS)-related  disorders  of  X-linked  thrombocytopenia  (XLT)  and  X-linked  congenital  neutropenia  (XLN)  are  often  clinical  similar  although  the  XLN  is  rarer.  They  are  both  caused  by  mutations  of  the  same  gene.