An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.
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.
Aytekin
Caner
C
Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
Yuksek
Mutlu
M
Dogu
Figen
F
Yagmurlu
Aydin
A
Yildiran
Alisan
A
Fitoz
Suat
S
Kologlu
Meltem
M
Babacan
Emel
E
Hershfield
Michael S
MS
Ikinciogullari
Aydan
A
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
D011683:Purine-Nucleoside Phosphorylase