@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}
}
