title: An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.
abstract: Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early diagnosis and hematopoietic stem cell transplantation may reverse the dismal prognosis in PNP deficiency. This report presents a new PNP deficiency case successfully transplanted without a conditioning regimen from an HLA-identical family donor, who developed a complication of disseminated BCG infection.
authors.affiliation: Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Caner
authors.initials: C
authors.lastname: Aytekin
authors.forename: Mutlu
authors.initials: M
authors.lastname: Yuksek
authors.forename: Figen
authors.initials: F
authors.lastname: Dogu
authors.forename: Aydin
authors.initials: A
authors.lastname: Yagmurlu
authors.forename: Alisan
authors.initials: A
authors.lastname: Yildiran
authors.forename: Suat
authors.initials: S
authors.lastname: Fitoz
authors.forename: Meltem
authors.initials: M
authors.lastname: Kologlu
authors.forename: Emel
authors.initials: E
authors.lastname: Babacan
authors.forename: Michael S
authors.initials: MS
authors.lastname: Hershfield
authors.forename: Aydan
authors.initials: A
authors.lastname: Ikinciogullari
mesh_terms: D015551:Autoimmunity; D016026:Bone Marrow Transplantation / Q000009:adverse effects / Q000379:methods*; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D009164:Mycobacterium Infections / Q000150:complications / Q000209:etiology; D009163:Mycobacterium bovis / Q000378:metabolism; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000628:therapy*; D012008:Recurrence; D019172:Transplantation Conditioning / Q000009:adverse effects / Q000379:methods*; D016896:Treatment Outcome
chemical_list: D011683:Purine-Nucleoside Phosphorylase