title: Severe combined immunodeficiency due to adenosine deaminase deficiency.
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.
authors: Department of Paediatric Medicine, Sheikh Zayed Hospital, Lahore, Pakistan.
authors: Waqar
authors: W
authors: Hussain
authors: Asma
authors: A
authors: Batool
authors: Tahir Aziz
authors: TA
authors: Ahmed
authors: Muhammad Mukarram
authors: MM
authors: Bashir
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency; D000361:Agammaglobulinemia / Q000175:diagnosis* / Q000188:drug therapy; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D000243:Adenosine Deaminase