Avtor/Urednik     Čižnar, P; Horakova, J; Šufliarska, S; Bodova, I; Fabriciova, K
Naslov     Adenosine deaminase deficiency in a child - case report from Slovakia
Prevedeni naslov     Otrok s pomanjkljivostjo adenozin deaminaze - prikaz primera iz Slovaške
Tip     članek
Vir     Slov Pediatr
Vol. in št.     Letnik 15, št. 1
Leto izdaje     2008
Obseg     str. 45-50
Jezik     eng
Abstrakt     Adenosine deaminase deficiency is an autosomal recessive disorder of purine metabolism, which presents as severe combined immunodeficiency. Its estimated incidence is 1 per million, and it represents approximately 15% of all severe combined immunodeficiency patients. This defect causes the most profound depletion of T, B, and NK lymphocytes found in any form of severe combined immunodeficiency. The pathogenesis, clinical characteristics, diagnosis and management of adenosine deaminase-deficiency in a 4-month-old girl is described. This is the first case of successful treatment of a severe combined immunodeficiency patient by bone marrow transplantation in Slovakia.
Deskriptorji     ADENOSINE DEAMINASE
SEVERE COMBINED IMMUNODEFICIENCY
BONE MARROW TRANSPLANTATION
BCG VACCINE
CHILD, PRESCHOOL