The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature. (19th May 2019)

• Record Type: Journal Article
• Authors: Fekrvand, Saba; Yazdani, Reza; Abolhassani, Hassan; Ghaffari, Javad; Aghamohammadi, Asghar
• Is Part Of: Immunological investigations. Volume 48:Number 4(2019)
• Page Start: 410
• Page End: 430
• Publication Date: 2019-05-19
• Subjects: Purine nucleoside phosphorylase deficiency -- combined immunodeficiency -- IgA deficiency -- autoimmune hemolytic anemia -- chicken pox; Immunology -- Periodicals; Immunochemistry -- Periodicals; Cellular immunity -- Periodicals; Communicable diseases -- Periodicals; 616.079
• DOI: 10.1080/08820139.2019.1570249
• Languages: English
• ISSNs: 0882-0139

Abstract

ABSTRACT: Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive primary immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell abnormalities, decreased amount of serum uric acid and PNP enzyme activity. The affected patients usually present with recurrent infections, neurological dysfunction and autoimmune phenomena. In this study, whole-exome sequencing was used to detect mutation in the case suspected of having primary immunodeficiency. We found a homozygous mutation in PNP gene in a girl who is the third case from the national Iranian registry. She had combined immunodeficiency, autoimmune hemolytic anemia and a history of recurrent infections. She developed no neurological dysfunction. She died at the age of 11 after a severe chicken pox infection. PNP deficiency should be considered in late-onset children with recurrent infections, autoimmune disorders without typical neurologic impairment.