{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T22:42:26Z","timestamp":1765233746775,"version":"3.37.3"},"reference-count":28,"publisher":"Maad Rayan Publishing Company","issue":"12","content-domain":{"domain":["journalaim.com"],"crossmark-restriction":false},"short-container-title":["Arch Iran Med"],"published-print":{"date-parts":[[2023,12,1]]},"abstract":"<jats:p>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&gt;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.<\/jats:p>","DOI":"10.34172\/aim.2023.105","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T11:33:56Z","timestamp":1709724836000},"page":"712-716","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations"],"prefix":"10.34172","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3818-694X","authenticated-orcid":true,"given":"Zahra","family":"Alizadeh","sequence":"first","affiliation":[{"name":"Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran"},{"name":"Children\u2019s Medical Center, Pediatrics Center of 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