Author/Editor		Čižnar, P; Horakova, J; Šufliarska, S; Bodova, I; Fabriciova, K
Title		Adenosine deaminase deficiency in a child - case report from Slovakia
Translated title		Otrok s pomanjkljivostjo adenozin deaminaze - prikaz primera iz Slovaške
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 15, št. 1
Publication year		2008
Volume		str. 45-50
Language		eng
Abstract		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.
Descriptors		ADENOSINE DEAMINASE SEVERE COMBINED IMMUNODEFICIENCY BONE MARROW TRANSPLANTATION BCG VACCINE CHILD, PRESCHOOL