Medical Challenges of a Common Variable Immunodeficiency With a TNFRSF13B Gene Mutation in a Simultaneous Kidney and Pancreas Transplant Recipient

Coimbra, Miguel T; Silvano, José; Martins, La Salete

Publication

Medical Challenges of a Common Variable Immunodeficiency With a TNFRSF13B Gene Mutation in a Simultaneous Kidney and Pancreas Transplant Recipient

2023-08Journal article

dc.contributor.author	Coimbra, Miguel T
dc.contributor.author	Silvano, José
dc.contributor.author	Martins, La Salete
dc.date.accessioned	2024-06-17T16:22:53Z
dc.date.available	2024-06-17T16:22:53Z
dc.date.issued	2023-08
dc.description.abstract	Common variable immune deficiency (CVID) is a primary immunodeficiency disorder, with hypogammaglobulinemia and increased susceptibility to recurrent infections, autoimmune disorders, granulomatous diseases and malignancy. Among the solid organ transplant (SOT) recipient population, those with primary immunodeficiency disorders under chronic immunosuppression therapy can theoretically be at higher risk of atypical infections, autoimmune complications and disease recurrence with suboptimal long term graft survival, but literature is scarce. Here, we report a 27-year-old female with type 1 diabetes mellitus, complicated with nephropathy that progressed to end-stage renal disease (ESRD), who had a history of a chronic inflammatory response dysregulation, with chronic monoarthritis, persistent elevation of inflammation markers, recurrent infections, low immunoglobulin G (IgG) and A (IgA) serum levels, a slightly decreased population of memory B cells at flow cytometric immunophenotyping, and a confirmed pathological heterozygous mutation in the tumor necrosis factor receptor superfamily 13B (TNFRSF13B), with a suspected diagnosis of CVID. Whilst on hemodialysis, she received a simultaneous kidney and pancreas transplant from a standard criteria donor (SCD), and our induction and maintenance immunosuppression protocol and prophylaxis regimen allowed for a successful transplant with immediate pancreatic function, with no evidence of renal graft rejection upon biopsy in the early post-transplant period, and no novel episodes of serious infectious complications were recorded during a follow-up period of six months	pt_PT
dc.description.version	info:eu-repo/semantics/publishedVersion	pt_PT
dc.identifier.citation	Coimbra MT, Silvano J, Martins S. Medical Challenges of a Common Variable Immunodeficiency With a TNFRSF13B Gene Mutation in a Simultaneous Kidney and Pancreas Transplant Recipient. Cureus. 2023;15(8):e44211. doi:10.7759/cureus.44211	pt_PT
dc.identifier.doi	10.7759/cureus.44211	pt_PT
dc.identifier.issn	2168-8184
dc.identifier.uri	http://hdl.handle.net/10400.16/2937
dc.language.iso	eng	pt_PT
dc.peerreviewed	yes	pt_PT
dc.publisher	Cureus, Inc.	pt_PT
dc.relation.publisherversion	https://www.cureus.com/articles/166985-medical-challenges-of-a-common-variable-immunodeficiency-with-a-tnfrsf13b-gene-mutation-in-a-simultaneous-kidney-and-pancreas-transplant-recipient#!/	pt_PT
dc.rights.uri	http://creativecommons.org/licenses/by/4.0/	pt_PT
dc.subject	calcineurin inhibitors	pt_PT
dc.subject	chronic kidney disease	pt_PT
dc.subject	common variable immunodeficiency	pt_PT
dc.subject	pancreas and kidney transplant	pt_PT
dc.subject	primary immunodeficiency disorder	pt_PT
dc.title	Medical Challenges of a Common Variable Immunodeficiency With a TNFRSF13B Gene Mutation in a Simultaneous Kidney and Pancreas Transplant Recipient	pt_PT
dc.type	journal article
dspace.entity.type	Publication
oaire.citation.conferencePlace	United States of America	pt_PT
oaire.citation.issue	8	pt_PT
oaire.citation.startPage	e44211	pt_PT
oaire.citation.title	Cureus	pt_PT
oaire.citation.volume	15	pt_PT
person.familyName	Silvano
person.familyName	Martins
person.givenName	José
person.givenName	La Salete
person.identifier	1911437
person.identifier.ciencia-id	7A1B-8631-FC46
person.identifier.orcid	0000-0002-5266-2300
person.identifier.orcid	0000-0002-6110-2102
person.identifier.scopus-author-id	56207848700
rcaap.rights	openAccess	pt_PT
rcaap.type	article	pt_PT
relation.isAuthorOfPublication	6890edd8-585d-47dc-aa25-f1ad204bb449
relation.isAuthorOfPublication	71fef9db-e03d-423a-af46-2909891b037d
relation.isAuthorOfPublication.latestForDiscovery	71fef9db-e03d-423a-af46-2909891b037d