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Protein Kinase C-Delta Defect in Autoimmune Lymphoproliferative Syndrome-Like Disease: First Case From the National Iranian Registry and Review of the Literature Publisher Pubmed



Sharifinejad N1, 2 ; Azizi G2 ; Behniafard N3 ; Zakidizaji M4 ; Jamee M1, 2 ; Yazdani R5 ; Abolhassani H6 ; Aghamohammadi A5
Authors
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Authors Affiliations
  1. 1. Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran
  2. 2. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  3. 3. Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  4. 4. Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran
  5. 5. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden

Source: Immunological Investigations Published:2022


Abstract

Background: Protein kinase C is a family of serine/threonine kinases that play a key role in the adaptive immune cell signaling, as well as regulation of growth, apoptosis, and differentiation of a variety of cell types. Patients homozygous for a null mutation of the Protein Kinase C Delta (PRKCD) gene, present clinical feature of immune dysregulation with susceptibility to Epstein-Barr virus infection. However, a minority of patients present the autoimmune lymphoproliferative syndrome (ALPS). Methods: The data were collected by direct interview and examining the patient’s clinical record. Whole-exome sequencing was performed to detect the underlying genetic mutation in the patient. We also conducted electronic searches for ALPS-like reported patients in PubMed, Web of Science, and Scopus databases. Results: In this study, we reported a 13-year-old boy who presented with autoimmunity, lymphoproliferation, recurrent pneumonia, cardiomyopathy, and dermatological manifestations. An elevation of double-negative T cells, CD8+ T cells, serum IgG level, as well as a reduction in NK cells, was observed in the patient. A homozygous frameshift mutation (c.1293_1294insA) in exon 13 of the PRKCD gene was confirmed. The literature search showed 39 ALPS-like patients with monogenic defects which only six (15.3%) of them were due to PRKCD genes. Conclusion: PRKCD should be considered in the context of ALPS clinical manifestations with prominent dermatological involvements. © 2020 Taylor & Francis Group, LLC.
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