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Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications

De Rose, Domenico Umberto
•
Giliani, Silvia
•
NOTARANGELO, LUCIA DORA
altro
Badolato, Raffaele
2018
  • journal article

Periodico
CLINICAL IMMUNOLOGY
Abstract
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.
DOI
10.1016/j.clim.2018.03.005
WOS
WOS:000431473500012
Archivio
http://hdl.handle.net/11368/2954719
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053248519
https://www.sciencedirect.com/science/article/pii/S152166161730894X?via=ihub
Diritti
open access
FVG url
https://arts.units.it/request-item?handle=11368/2954719
Soggetti
  • Leukocyte Adhesion De...

  • primary immunodeficie...

  • β2 integrin familiy

  • CD18

  • hematopoietic stem ce...

  • antibiotic prophylaxi...

Web of Science© citazioni
21
Data di acquisizione
Mar 24, 2024
Visualizzazioni
2
Data di acquisizione
Apr 19, 2024
Vedi dettagli
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