TY - JOUR
T1 - New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)
AU - Willemse, Brigitte W.M.
AU - van der Crabben, Saskia N.
AU - Kerstjens-Frederikse, Wilhelmina S.
AU - Timens, Wim
AU - van Montfrans, Joris M.
AU - Lindemans, Caroline A.
AU - Boelens, Jaap Jan
AU - Hennus, Marije P.
AU - van Haaften, Gijs
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.
AB - We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.
KW - Hematopoietic stem-cell transplantation
KW - Immunodeficiency
KW - NSMCE3 gene
KW - Pediatric acute respiratory distress syndrome (PARDS)
KW - Severe respiratory failure
UR - https://www.scopus.com/pages/publications/85102797737
U2 - 10.1186/s13023-021-01770-z
DO - 10.1186/s13023-021-01770-z
M3 - Letter
C2 - 33741030
AN - SCOPUS:85102797737
SN - 1750-1172
VL - 16
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 137
ER -