Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients With Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations Publisher Pubmed



Alizadeh Z^{1, 2} ; Badalzadeh M^{1, 2} ; Heydarlou H^{1, 2} ; Shakerian L^{1, 2} ; Rad MM^{1, 2} ; Zandieh F³ ; Fazlollahi MR^{1, 2}
Source: Archives of Iranian Medicine Published:2023

Abstract

Two Iranian patients with purine nucleoside phosphorylase (PNP) deficiency are described in terms of their clinical and molecular evaluations. PNP deficiency is a rare form of combined immunodeficiency with a profound cellular defect. Patients with PNP deficiency suffer from variable recurrent infections, hypouricemia, and neurological manifestations. Furthermore, patient 1 developed mild cortical atrophy, and patient 2 presented developmental delay, general muscular hypotonia, and food allergy. The two unrelated patients with developed autoimmune hemolytic anemia and T cells lymphopenia and eosinophilia were referred to Immunology, Asthma and Allergy Research Institute (IAARI) in 2019. After taking blood and DNA extraction, genetic analysis of patient 1 was performed by PCR and direct sequencing and whole exome sequencing was applied for patient 2 and the result was confirmed by direct sequencing in the patient and his parents. The genetic result showed two novel variants in exon 3 (c.246_285+9del) and exon 5 (c.569G>T) PNP (NM_000270.4) in the patients, respectively. These variants are considered likely pathogenic based on the American College of Medical Genetics and Genomics (ACMG) guideline. PNP deficiency has a poor prognosis; therefore, early diagnosis would be vital to receive hematopoietic stem cell transplantation (HSCT) as a prominent and successful treatment. © 2023 Academy of Medical Sciences of I.R. Iran. All rights reserved.