Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.
Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy. Electronic address: vlougarisbs@yahoo.com.
Vassilios
V
Lougaris
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Flavio
F
Faletra
Institute for Molecular Medicine A.Nocivelli and Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, Spedali Civili di Brescia, Italy.
Gaetana
G
Lanzi
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Diego
D
Vozzi
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Annalisa
A
Marcuzzi
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Erica
E
Valencic
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Elisa
E
Piscianz
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
AnnaMonica
A
Bianco
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Martina
M
Girardelli
Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy.
Manuela
M
Baronio
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Claudia
C
Loganes
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
Anders
A
Fasth
Pediatric Department, San Paolo Hospital, University of Milan, Italy.
Filippo
F
Salvini
Department of Pediatric Oncology and Hematology, ARNAS CIVICO, Palermo, Italy.
Antonino
A
Trizzino
Institute for Molecular Medicine A.Nocivelli and Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, Spedali Civili di Brescia, Italy.
Daniele
D
Moratto
Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, Italy.
Fabio
F
Facchetti
Institute for Molecular Medicine A.Nocivelli and Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, Spedali Civili di Brescia, Italy.
Silvia
S
Giliani
Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy.
Alessandro
A
Plebani
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Alberto
A
Tommasini
D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism*; D002675:Child, Preschool; D058543:Class Ia Phosphatidylinositol 3-Kinase; D005260:Female; D018858:Germinal Center / Q000276:immunology / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000235:genetics* / Q000276:immunology; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics* / Q000276:immunology; D022821:RNA Splice Sites / Q000235:genetics; D017422:Sequence Analysis, DNA
D058543:Class Ia Phosphatidylinositol 3-Kinase; D019869:Phosphatidylinositol 3-Kinases; D022821:RNA Splice Sites; C588001:PIK3R1 protein, human
B cells; Germinal Center (GC) reaction; Hyper-IgM syndrome; PIK3R1