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Biblio
Author
Title
Type
[
Year
]
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Author
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Garcia-Prat, Marina
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2019
Arcas-García A
,
Garcia-Prat M
,
Magallón-Lorenz M
,
Martin-Nalda A
,
Drechsel O
,
Ossowski S
,
Alonso L
,
Rivière JG
,
Soler-Palacín P
,
Colobran R
, et al.
The IL2RG R328X nonsense mutation allows partial STAT5 phosphorylation and defines a critical region involved in leaky-SCID phenotype.
Clin Exp Immunol. 2019.
PubMed
Google Scholar
Tesch VKatharina
,
Abolhassani H
,
Shadur B
,
Zobel J
,
Mareika Y
,
Sharapova S
,
Karakoc-Aydiner E
,
Rivière JG
,
Garcia-Prat M
,
Moes N
, et al.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol. 2019.
PubMed
Google Scholar
2021
Dimitrova D
,
Nademi Z
,
Maccari MElena
,
Ehl S
,
Uzel G
,
Tomoda T
,
Okano T
,
Imai K
,
Carpenter B
,
Ip W
, et al.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
J Allergy Clin Immunol. 2021.
PubMed
Google Scholar