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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; Lougaris, Vassilios; Lanfranchi, Arnalda; Moratto, Daniele; Martire, Baldassarre; Specchia, Fernando; Tommasini, Alberto; Plebani, Alessandro; Badolato, Raffaele.
Afiliação
  • De Rose DU; Clinica Pediatrica and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili Hospital, Brescia, Italy.
  • Giliani S; Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Notarangelo LD; Pediatric Hematology and Oncology Unit, Spedali Civili Hospital, Brescia, Italy.
  • Lougaris V; Clinica Pediatrica and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili Hospital, Brescia, Italy; Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital
  • Lanfranchi A; Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Spedali Civili Hospital, Brescia, Italy.
  • Moratto D; Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Martire B; Pediatric Hematology and Oncology Unit, "Policlinico Giovanni XXIII" Hospital, University of Bari, Bari, Italy.
  • Specchia F; Department of Pediatrics, University of Bologna, Bologna, Italy.
  • Tommasini A; Department of Pediatrics, Institute for Maternal and Child Health, IRCSS "Burlo Garofolo", Trieste, Italy.
  • Plebani A; Clinica Pediatrica and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili Hospital, Brescia, Italy; Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital
  • Badolato R; Clinica Pediatrica and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili Hospital, Brescia, Italy; Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital
Clin Immunol ; 191: 75-80, 2018 06.
Article em En | MEDLINE | ID: mdl-29548898
Leukocyte Adhesion Deficiency type 1 (LAD-1) is a rare primary immunodeficiency due to mutations in the gene encoding for the common ß-chain of the ß2 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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Síndrome da Aderência Leucocítica Deficitária / Infecções Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Síndrome da Aderência Leucocítica Deficitária / Infecções Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália