Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.

Autor: Alizadeh Z; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Badalzadeh M; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Heydarlou H; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Shakerian L; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Mahlooji Rad M; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Zandieh F; Department of Asthma, Allergy and Immunology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran., Fazlollahi MR; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Jazyk: angličtina
Zdroj: Archives of Iranian medicine [Arch Iran Med] 2023 Dec 01; Vol. 26 (12), pp. 712-716. Date of Electronic Publication: 2023 Dec 01.
DOI: 10.34172/aim.2023.105
Abstrakt: 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 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)
Databáze: MEDLINE
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