@article {10428,
	title = {Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.},
	journal = {Clin Immunol},
	volume = {191},
	year = {2018},
	month = {2018 Jun},
	pages = {75-80},
	abstract = {<p>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.</p>},
	issn = {1521-7035},
	doi = {10.1016/j.clim.2018.03.005},
	author = {De Rose, Domenico Umberto and Giliani, Silvia and Notarangelo, Lucia Dora and Lougaris, Vassilios and Lanfranchi, Arnalda and Moratto, Daniele and Martire, Baldassarre and Specchia, Fernando and Tommasini, Alberto and Plebani, Alessandro and Badolato, Raffaele}
}
@article {7787,
	title = {Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.},
	journal = {Clin Immunol},
	volume = {159},
	year = {2015},
	month = {2015 Jul},
	pages = {33-6},
	keywords = {B-Lymphocytes, Child, Preschool, Female, Germinal Center, Humans, Hyper-IgM Immunodeficiency Syndrome, Infant, Male, Mutation, Phenotype, Phosphatidylinositol 3-Kinases, RNA Splice Sites, Sequence Analysis, DNA},
	issn = {1521-7035},
	doi = {10.1016/j.clim.2015.04.014},
	author = {Lougaris, Vassilios and Faletra, Flavio and Lanzi, Gaetana and Vozzi, Diego and Marcuzzi, Annalisa and Valencic, Erica and Piscianz, Elisa and Bianco, AnnaMonica and Girardelli, Martina and Baronio, Manuela and Loganes, Claudia and Fasth, Anders and Salvini, Filippo and Trizzino, Antonino and Moratto, Daniele and Facchetti, Fabio and Giliani, Silvia and Plebani, Alessandro and Tommasini, Alberto}
}
@article {1613,
	title = {Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.},
	journal = {Clin Immunol},
	volume = {139},
	year = {2011},
	month = {2011 Apr},
	pages = {6-11},
	abstract = {<p>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.</p>},
	keywords = {Adolescent, Adult, Child, Child, Preschool, Heterozygote, Homozygote, Humans, Middle Aged, Mutation, Polyendocrinopathies, Autoimmune, Time Factors, Young Adult},
	issn = {1521-7035},
	doi = {10.1016/j.clim.2010.12.021},
	author = {Mazza, Cinzia and Buzi, Fabio and Ortolani, Federica and Vitali, Alberto and Notarangelo, Lucia D and Weber, Giovanna and Bacchetta, Rosa and Soresina, Annarosa and Lougaris, Vassilios and Greggio, Nella A and Taddio, Andrea and Pasic, Srdjan and de Vroede, Monique and Pac, Malgorzata and Kilic, Sara Sebnem and Ozden, Sanal and Rusconi, Roberto and Martino, Silvana and Capalbo, Donatella and Salerno, Mariacarolina and Pignata, Claudio and Radetti, Giorgio and Maggiore, Giuseppe and Plebani, Alessandro and Notarangelo, Luigi D and Badolato, Raffaele}
}
