TY - JOUR
T1 - Type II Bare Lymphocyte Syndrome
T2 - Role of Peripheral Blood Flow Cytometry and Utility of Stem Cell Transplant in Treatment
AU - Kallen, Michael E.
AU - Pullarkat, Sheeja T.
PY - 2015/12/1
Y1 - 2015/12/1
N2 - Major histocompatibility complex class II (MHCII) deficiency is a rare autosomal recessive immunodeficiency disorder characterized by lack of expression of MHCII molecules, causing defective CD4+ lymphocyte function and an impaired immune response. Clinical manifestations include susceptibility to severe bacterial, viral, and fungal infections which can lead to failure to thrive and childhood death. The only definitive treatment to date is allogeneic stem cell transplantation. Here, we share our experience of 2 patients who presented with MHCII deficiency. We will discuss the role of diagnostic modalities and stem cell transplantation.
AB - Major histocompatibility complex class II (MHCII) deficiency is a rare autosomal recessive immunodeficiency disorder characterized by lack of expression of MHCII molecules, causing defective CD4+ lymphocyte function and an impaired immune response. Clinical manifestations include susceptibility to severe bacterial, viral, and fungal infections which can lead to failure to thrive and childhood death. The only definitive treatment to date is allogeneic stem cell transplantation. Here, we share our experience of 2 patients who presented with MHCII deficiency. We will discuss the role of diagnostic modalities and stem cell transplantation.
KW - Bare Lymphocyte Syndrome
KW - MHC II deficiency
KW - stem cell transplantation
UR - http://www.scopus.com/inward/record.url?scp=84937965481&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84937965481&partnerID=8YFLogxK
U2 - 10.1097/MPH.0000000000000278
DO - 10.1097/MPH.0000000000000278
M3 - Article
C2 - 25354255
AN - SCOPUS:84937965481
SN - 1077-4114
VL - 37
SP - e245-e249
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
IS - 4
ER -