Academic Journal
EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency
| العنوان: | EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency |
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| المؤلفون: | Schipp, Cyrill, Schlütermann, David, Hönscheid, Andrea, Nabhani, Schafiq, Höll, Jessica, Oommen, Prasad T., Ginzel, Sebastian, Fleckenstein, Bernhard, Stork, Björn, Borkhardt, Arndt, Stepensky, Polina, Fischer, Ute |
| المصدر: | Frontiers in Immunology ; ISSN 1664-3224 ; Front. Immunol. 9:2400 |
| بيانات النشر: | Hochschule Bonn-Rhein-Sieg |
| سنة النشر: | 2018 |
| المجموعة: | pub H-BRS - Publication Server of Bonn-Rhein-Sieg University of Applied Sciences |
| مصطلحات موضوعية: | ddc:610 |
| الوصف: | Serine/threonine kinase 4 (STK4) deficiency is an autosomal recessive genetic condition that leads to primary immunodeficiency (PID) typically characterized by lymphopenia, recurrent infections and Epstein Barr Virus (EBV) induced lymphoproliferation and -lymphoma. State-of-the-art treatment regimens consist of prevention or treatment of infections, immunoglobulin substitution (IVIG) and restoration of the immune system by hematopoietic stem cell transplantation. Here, we report on two patients from two consanguineous families of Turkish (patient P1) and Moroccan (patient P2) decent, with PID due to homozygous STK4 mutations. P1 harbored a previously reported frameshift (c.1103 delT, p.M368RfsX2) and P2 a novel splice donor site mutation (P2; c.525+2 T>G). Both patients presented in childhood with recurrent infections, CD4 lymphopenia and dysregulated immunoglobulin levels. Patient P1 developed a highly malignant B cell lymphoma at the age of 10 years and a second, independent Hodgkin lymphoma 5 years later. To our knowledge she is the first STK4 deficient case reported who developed lymphoma in the absence of detectable EBV or other common viruses. Lymphoma development may be due to the lacking tumor suppressive function of STK4 or the perturbed immune surveillance due to the lack of CD4+ T cells. Our data should raise physicians' awareness of [1] lymphoma proneness of STK4 deficient patients even in the absence of EBV infection and [2] possibly underlying STK4 deficiency in pediatric patients with a history of recurrent infections, CD4 lymphopenia and lymphoma and unknown genetic make-up. Patient P2 experienced recurrent otitis in childhood, but when she presented at the age of 14, she showed clinical and immunological characteristics similar to patients suffering from Autoimmune Lymphoproliferative Syndrome (ALPS): elevated DNT cell number, non-malignant lymphadenopathy and hepatosplenomegaly, hematolytic anemia, hypergammaglobulinemia. Also patient P1 presented with ALPS-like features (lymphadenopathy, ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/30386345; https://pub.h-brs.de/frontdoor/index/index/docId/4204; https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-42048; https://pub.h-brs.de/files/4204/fimmu-09-02400.pdf |
| الاتاحة: | https://pub.h-brs.de/frontdoor/index/index/docId/4204 https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-42048 https://pub.h-brs.de/files/4204/fimmu-09-02400.pdf |
| Rights: | info:eu-repo/semantics/openAccess ; https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.D9731652 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |