Title of article :
Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency
Author/Authors :
Hussain, Waqar Sheikh Zayed Hospital - Department of Paediatric Medicine, Pakistan , Batool, Asma Sheikh Zayed Hospital - Department of Paediatric Medicine, Pakistan , Ahmed, Tahir Aziz Armed Forces Institute of Pathology (AFIP) - Immunology Department, Pakistan , Bashir, Muhammad Mukarram Armed Forces Institute of Pathology (AFIP) - Immunology Department, Pakistan
Abstract :
Severe Combined Immunodeficiency is the term applied to a group of rare genetic disorders characterised by defective or absent T and B cell functions. Patients usually present in first 6 months of life with respiratory/gastrointestinal tract infections and failure to thrive. Among the various types of severe combined immunodeficiency, enzyme deficiencies are relatively less common. We report the case of a 6 years old girl having severe combined immunodeficiency due to adenosine deaminase deficiency.
Keywords :
Combined Immunodeficiency , T and B cell , Gastrointestinal tract infections , Adenosine deaminase.
Journal title :
Journal of the Pakistan Medical Association (Centre) JPMA
Journal title :
Journal of the Pakistan Medical Association (Centre) JPMA
