title: A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.
abstract: PNP deficiency is a rare combined immunodeficiency with autosomal recessive mode of inheritance. The immunodeficiency is progressive with normal immune functions at birth, but then, T-cell deficiency with variable B-cell functions usually presents by the age of two yr. The only curative treatment for PNP deficiency is hematopoietic stem cell transplantation. Here, we present a 13-yr-old girl with late-onset PNP deficiency. Despite many complications of infections, she was successfully transplanted with a reduced intensity-conditioning regimen from an HLA-identical unrelated donor.
authors.affiliation: Department of Pediatric Allergy-Immunology, Antalya Education and Research Hospital, Antalya, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Celmeli
authors.forename: Doga
authors.initials: D
authors.lastname: Turkkahraman
authors.forename: Vedat
authors.initials: V
authors.lastname: Uygun
authors.forename: Giancarlo
authors.initials: G
authors.lastname: la Marca
authors.forename: Michael
authors.initials: M
authors.lastname: Hershfield
authors.forename: Akif
authors.initials: A
authors.lastname: Yesilipek
mesh_terms: D000293:Adolescent; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007136:Immunoglobulins / Q000737:chemistry; D007153:Immunologic Deficiency Syndromes / Q000503:physiopathology; D009154:Mutation; D010264:Paraplegia / Q000150:complications; D036102:Peripheral Blood Stem Cell Transplantation; D000081207:Primary Immunodeficiency Diseases; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000628:therapy*; D011948:Receptors, Antigen, T-Cell / Q000378:metabolism; D012141:Respiratory Tract Infections / Q000150:complications; D019172:Transplantation Conditioning
chemical_list: D007136:Immunoglobulins; D011948:Receptors, Antigen, T-Cell; D011683:Purine-Nucleoside Phosphorylase
keywords: late-onset; peripheral blood stem cell transplantation; purine nucleoside phosphorylase deficiency