TY  - CHAP
M1  - Book, Section
TI  - Wiskott-Aldrich Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
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.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164088249
ER  -