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 - TY - JOUR T1 - Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. JF - Clin Immunol Y1 - 2011 A1 - Mazza, Cinzia A1 - Buzi, Fabio A1 - Ortolani, Federica A1 - Vitali, Alberto A1 - Notarangelo, Lucia D A1 - Weber, Giovanna A1 - Bacchetta, Rosa A1 - Soresina, Annarosa A1 - Lougaris, Vassilios A1 - Greggio, Nella A A1 - Taddio, Andrea A1 - Pasic, Srdjan A1 - de Vroede, Monique A1 - Pac, Malgorzata A1 - Kilic, Sara Sebnem A1 - Ozden, Sanal A1 - Rusconi, Roberto A1 - Martino, Silvana A1 - Capalbo, Donatella A1 - Salerno, Mariacarolina A1 - Pignata, Claudio A1 - Radetti, Giorgio A1 - Maggiore, Giuseppe A1 - Plebani, Alessandro A1 - Notarangelo, Luigi D A1 - Badolato, Raffaele KW - Adolescent KW - Adult KW - Child KW - Child, Preschool KW - Heterozygote KW - Homozygote KW - Humans KW - Middle Aged KW - Mutation KW - Polyendocrinopathies, Autoimmune KW - Time Factors KW - Young Adult AB -

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails. We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy. We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease. Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2 years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.

VL - 139 IS - 1 U1 - http://www.ncbi.nlm.nih.gov/pubmed/21295522?dopt=Abstract ER -