دورية أكاديمية
أعرض في EDS

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.

التفاصيل البيبلوغرافية
العنوان: Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.
المؤلفون: Slade CA; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia. slade.c@wehi.edu.au.; Immunology Division, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia. slade.c@wehi.edu.au.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia. slade.c@wehi.edu.au., McLean C; Department of Anatomical Pathology, The Alfred Hospital, Prahran, VIC, 3181, Australia., Scerri T; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia.; Population Health and Immunity, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia., Giang TB; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia.; Immunology Division, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia., Megaloudis S; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia.; Immunology Division, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia., Strathmore A; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia.; Immunology Division, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia., Tempany JC; Immunology Division, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia., Nicholls K; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia., D'Arcy C; Department of Anatomical Pathology, The Alfred Hospital, Prahran, VIC, 3181, Australia., Bahlo M; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia.; Population Health and Immunity, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia., Hodgkin PD; Immunology Division, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia., Douglass JA; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia.; Department of Medicine, The University of Melbourne, Parkville, VIC, 3010, Australia., Bryant VL; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia.; Immunology Division, Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia.
المصدر: Journal of clinical immunology [J Clin Immunol] 2019 Apr; Vol. 39 (3), pp. 324-335. Date of Electronic Publication: 2019 Mar 29.
نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
أسماء مطبوعة: Publication: Amsterdam : Springer
Original Publication: New York : Plenum, c1981-
مواضيع طبية MeSH: Common Variable Immunodeficiency/*diagnosis , Encephalomyelitis/*diagnosis , Enterovirus/*physiology , Enterovirus Infections/*diagnosis , NF-kappa B p52 Subunit/*genetics , Neurodegenerative Diseases/*diagnosis , Sequence Deletion/*genetics, Biopsy ; Cells, Cultured ; Child ; Common Variable Immunodeficiency/genetics ; Encephalomyelitis/genetics ; Enterovirus Infections/genetics ; Fatal Outcome ; Female ; Humans ; Neurodegenerative Diseases/genetics ; Pedigree
مستخلص: Common variable immunodeficiency is the most prevalent of the primary immunodeficiency diseases, yet its pathogenesis is largely poorly understood. Of the cases that are monogenic, many arise due to pathogenic variants in NFKB1 and NFKB2. Here, we report enteroviral encephalomyelitis as the cause of a fatal neurodegenerative condition in a patient with a novel heterozygous mutation in NFKB2 (c.2543insG, p.P850Sfs36*) that disrupts non-canonical NF-κB signaling. Investigations of primary and secondary lymphoid tissue demonstrated a complete absence of B cells and germinal centers. Despite multiple negative viral PCR testing of cerebrospinal fluid during her disease progression, post-mortem analysis of cerebral tissue revealed a chronic lymphocytic meningoencephalitis, in the presence of Cocksackie A16 virus, as the cause of death. The clinical features, and progression of disease reported here, demonstrate divergent clinical and immunological phenotypes of individuals within a single family. This is the first reported case of fatal enteroviral encephalomyelitis in a patient with NF-κB2 deficiency and mandates a low threshold for early brain biopsy and the administration of increased immunoglobulin replacement in any patient with a defect in this pathway and deterioration of neurological status.
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فهرسة مساهمة: Keywords: CVID; Immunodeficiency; NF-kappaB2 deficiency; NFKB2; encephalitis; enterovirus
المشرفين على المادة: 0 (NF-kappa B p52 Subunit)
0 (NFKB2 protein, human)
تواريخ الأحداث: Date Created: 20190331 Date Completed: 20200706 Latest Revision: 20220801
رمز التحديث: 20231215
DOI: 10.1007/s10875-019-00602-x
PMID: 30927119
قاعدة البيانات: MEDLINE
الوصف
تدمد:1573-2592
DOI:10.1007/s10875-019-00602-x