A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lympho
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ORIGINAL ARTICLE
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma Bandar Al-Saud 1,2 & Zainab Al Alawi 1,3 & Faisal Bin Hussain 4 & Michael Hershfield 5 & Fowzan S. Alkuraya 6 & Sulaiman M. Al-Mayouf 2,7 Received: 12 March 2020 / Accepted: 28 May 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Background Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of severe combined immunodeficiency diseases. PNP deficiency is a variable disease with recurrent infections and neurodevelopmental delay. Autoimmunity and malignancy can still occur in one-third of patients. Methods Case report. Case Presentation An 8-year-old Saudi female who was apparently healthy presented at the age of 7 years with confirmed systemic lupus erythematosus (SLE) and lupus nephritis that were poorly controlled with conventional therapy. She also had frequent sinopulmonary and varicella infections. Preliminary immunological workup showed severe lymphopenia and depressed lymphocyte proliferation assay. The uric acid was within normal levels at 179 μmol/L (normal range, 150 to 350 μmol/L) 6 weeks after blood transfusion. Genetic study revealed a homozygous missense mutation c.265G>A in the PNP gene, resulting in a substitution of glutamic acid to lysine at amino acid 89 of the encoded protein (E89K). The PNP serum level was 798 nmol/h/ mg (normal level 1354 ± 561 nmol/h/mg) 6 weeks after blood transfusion. Hematopoietic stem cell transplantation (HSCT) was planned from a matched unrelated donor; however, she developed an EBV and varicella meningoencephalitis. Atypical malignant cells suggestive of lymphoma were discovered, likely induced by EBV, and suspicious lesions were shown on brain MRI and PET scan. Unfortunately, she passed away before HSCT due to multiorgan failure. Conclusion This report emphasizes the challenges in recognizing PNP deficiency in a patient suffering from SLE. Keywords PNP . severe combined immunodeficiency . systemic lupus erythematosus . Epstein-Barr virus . CNS lymphoma
* Bandar Al-Saud [email protected] 1
Section of Allergy and Immunology, Department of Pediatrics, Division of Allergy & Immunology, King Faisal Specialist Hospital & Research Center, P.O. Box 3354, MBC-58, Riyadh 11211, Saudi Arabia
2
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
3
Department of Pediatrics, College of Medicine, King Faisal University, Alhasa, Saudi Arabia
4
Department of Radiology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
5
Department of Medicine, Duke University Medical Center, Durham, NC, USA
6
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
7
Department of Pediatrics, Division of Rheumatology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
Introduction Purine nucleoside phosphorylase (PNP) deficiency is a rare form of an autosomal recessive primary immunodeficiency disea
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