TY - JOUR T1 - Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications. JF - Clin Immunol Y1 - 2018 A1 - De Rose, Domenico Umberto A1 - Giliani, Silvia A1 - Notarangelo, Lucia Dora A1 - Lougaris, Vassilios A1 - Lanfranchi, Arnalda A1 - Moratto, Daniele A1 - Martire, Baldassarre A1 - Specchia, Fernando A1 - Tommasini, Alberto A1 - Plebani, Alessandro A1 - Badolato, Raffaele AB -

Leukocyte Adhesion Deficiency type 1 (LAD-1) is a rare primary immunodeficiency due to mutations in the gene encoding for the common β-chain of the β2 integrin family (CD18). Herein, we describe clinical manifestations and long-term complications of eight LAD-1 patients. Four LAD-1 patients were treated with hematopoietic stem cell transplantation (HSCT), while the remaining four, including two with moderate LAD-1 deficiency, received continuous antibiotic prophylaxis. Untreated patients presented numerous infections and autoimmune manifestations. In particular, two of them developed renal and intestinal autoimmune diseases, despite the expression of Beta-2 integrin was partially conserved. Other two LAD-1 patients developed type 1 diabetes and autoimmune cytopenia after HSCT, suggesting that HSCT is effective for preventing infections in LAD-1, but does not prevent the risk of the autoimmune complications.

VL - 191 U1 - http://www.ncbi.nlm.nih.gov/pubmed/29548898?dopt=Abstract ER - TY - JOUR T1 - Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. JF - Clin Immunol Y1 - 2015 A1 - Lougaris, Vassilios A1 - Faletra, Flavio A1 - Lanzi, Gaetana A1 - Vozzi, Diego A1 - Marcuzzi, Annalisa A1 - Valencic, Erica A1 - Piscianz, Elisa A1 - Bianco, AnnaMonica A1 - Girardelli, Martina A1 - Baronio, Manuela A1 - Loganes, Claudia A1 - Fasth, Anders A1 - Salvini, Filippo A1 - Trizzino, Antonino A1 - Moratto, Daniele A1 - Facchetti, Fabio A1 - Giliani, Silvia A1 - Plebani, Alessandro A1 - Tommasini, Alberto KW - B-Lymphocytes KW - Child, Preschool KW - Female KW - Germinal Center KW - Humans KW - Hyper-IgM Immunodeficiency Syndrome KW - Infant KW - Male KW - Mutation KW - Phenotype KW - Phosphatidylinositol 3-Kinases KW - RNA Splice Sites KW - Sequence Analysis, DNA VL - 159 IS - 1 U1 - http://www.ncbi.nlm.nih.gov/pubmed/25939554?dopt=Abstract ER -