title: Successful lectin-separated bone marrow transplantation in adenosine deaminase deficiency-related severe immunodeficiency.
abstract: Severe combined immunodeficiency disease (SCID) with adenosine deaminase (ADA) deficiency is a genetic autosomic recessive disorder with profound impairment of T-cell function, invariably complicated by fatal infections. The absence of ADA-enzyme and the accumulation of deoxy-ATP, with toxic effects on the T-lymphocytes is the common feature of this disease. As a consequence, lymphoid precursors failure to develop into mature T-cells, resulting in absolute lymphopenia and atrophy of the thymus. Bone marrow transplantation from an HLA-identical donor is considered the treatment of choice for this disease. We describe the case of a 1-month-old child with ADA deficiency SCID who underwent bone marrow transplantation (BMT) using paternal haploidentical, lectin-separated marrow, as a source of hemopoietic stem cells.
authors.affiliation: Clinica Pediatrica, Università, IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Nespoli
authors.forename: F
authors.initials: F
authors.lastname: Porta
authors.forename: F
authors.initials: F
authors.lastname: Locatelli
authors.forename: F
authors.initials: F
authors.lastname: Aversa
authors.forename: A
authors.initials: A
authors.lastname: Carotti
authors.forename: A
authors.initials: A
authors.lastname: Lanfranchi
authors.forename: A
authors.initials: A
authors.lastname: Gibardi
authors.forename: M E
authors.initials: ME
authors.lastname: Marchesi
authors.forename: L
authors.initials: L
authors.lastname: Abate
authors.forename: M F
authors.initials: MF
authors.lastname: Martelli
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D016026:Bone Marrow Transplantation; D005260:Female; D006086:Graft vs Host Disease; D006680:HLA Antigens / Q000276:immunology; D006648:Histocompatibility; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000601:surgery*; D007231:Infant, Newborn; D037102:Lectins; D008212:Lymphocyte Depletion; D037121:Plant Lectins; D012397:Rosette Formation; D030262:Soybean Proteins; D013602:T-Lymphocytes, Cytotoxic; D014184:Transplantation, Homologous; D010835:Phytohemagglutinins
chemical_list: D000243:Adenosine Deaminase; D006680:HLA Antigens; D037102:Lectins; D037121:Plant Lectins; D030262:Soybean Proteins; C028824:soybean lectin; D010835:Phytohemagglutinins