Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency

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dc.authorid0000-0002-4551-5433
dc.contributor.authorKolukısa, Burcu
dc.contributor.authorBaşer, Dilek
dc.contributor.authorAkçam, Bengü
dc.contributor.authorDanielson, Jeffrey
dc.contributor.authorBilgiç Eltan, Sevgi
dc.contributor.authorHaliloğlu, Yeşim
dc.contributor.authorSefer, Asena Pınar
dc.contributor.authorBabayeva, Royale
dc.contributor.authorAkgün, Gamze
dc.contributor.authorCharbonnier, Louis-Marie
dc.contributor.authorSchmitz-Abe, Klaus
dc.contributor.authorKendir Demirkol, Yasemin
dc.contributor.authorZhang, Yu
dc.contributor.authorGonzaga-Jauregui, Claudia
dc.contributor.authorHeredia, Raul Jimenez
dc.contributor.authorKasap, Nurhan
dc.contributor.authorKıykım, Ayça
dc.contributor.authorÖzek Yücel, Esra
dc.contributor.authorGök, Veysel
dc.contributor.authorÜnal, Ekrem
dc.contributor.authorPaç Kısaarslan, Ayşenur
dc.contributor.authorNepesov, Serdar
dc.contributor.authorBaysoy, Gökhan
dc.contributor.authorÖnal, Zerrin
dc.contributor.authorYeşil, Gözde
dc.contributor.authorCelkan, Tülin Tiraje
dc.contributor.authorÇokuğraş, Haluk
dc.contributor.authorCamcıoğlu, Yıldız
dc.contributor.authorEken, Ahmet
dc.contributor.authorBoztug, Kaan
dc.contributor.authorLo, Bernice
dc.contributor.authorKarakoç Aydıner, Elif
dc.contributor.authorSu, Helen C.
dc.contributor.authorÖzen, Ahmet
dc.contributor.authorChatila, Talal A.
dc.contributor.authorBarış, Safa
dc.date.accessioned2022-12-28T12:03:39Z
dc.date.available2022-12-28T12:03:39Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractBackground Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations. Methods The presenting phenotypes, long-term outcomes, and treatment responses were evaluated prospectively in 15 CARMIL2-deficient patients, including 13 novel cases. Lymphocyte subpopulations, protein expression, regulatory T (Treg), and circulating T follicular helper (cT(FH)) cells were analyzed. Three-dimensional (3D) migration assay was performed to determine T-cell shape. Results Mean age at disease onset was 38 +/- 23 months. Main clinical features were skin manifestations (n = 14, 93%), failure to thrive (n = 10, 67%), recurrent infections (n = 10, 67%), allergic symptoms (n = 8, 53%), chronic diarrhea (n = 4, 27%), and EBV-related leiomyoma (n = 2, 13%). Skin manifestations ranged from atopic and seborrheic dermatitis to psoriasiform rash. Patients had reduced proportions of memory CD4(+) T cells, Treg, and cT(FH) cells. Memory B and NK cells were also decreased. CARMIL2-deficient T cells exhibited reduced T-cell proliferation and cytokine production following CD28 co-stimulation and normal morphology when migrating in a high-density 3D collagen gel matrix. IBD was the most severe clinical manifestation, leading to growth retardation, requiring multiple interventional treatments. All patients were alive with a median follow-up of 10.8 years (range: 3-17 years). Conclusion This cohort provides clinical and immunological features and long-term follow-up of different manifestations of CARMIL2 deficiency.
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA ; Sidra Precision Medicine Programen_US
dc.identifier.citationKolukısa, B., Başer, D., Akçam, B., Danielson, J., Bilgiç Eltan, S., Haliloğlu, Y. ... Barış, S. (2022). Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency. Allergy: European Journal of Allergy and Clinical Immunology, 77(3), 1004-1019. https://doi.org/10.1111/all.15010
dc.identifier.doi10.1111/all.15010
dc.identifier.endpage1019
dc.identifier.issn0105-4538
dc.identifier.issn1398-9995
dc.identifier.issue3
dc.identifier.pmid34287962
dc.identifier.scopus2-s2.0-85111518818
dc.identifier.scopusqualityQ1
dc.identifier.startpage1004
dc.identifier.urihttps://doi.org/10.1111/all.15010
dc.identifier.urihttps://hdl.handle.net/20.500.12511/10208
dc.identifier.volume77
dc.identifier.wos000679305600001en_US
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorNepesov, Serdar
dc.institutionauthorBaysoy, Gökhan
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofAllergy: European Journal of Allergy and Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.relation.tubitakinfo:eu-repo/grantAgreement/TUBITAK/SOBAG/318S202
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectCARMIL2
dc.subjectCD28 Co-Signaling
dc.subjectCombined Immune Deficiency
dc.subjectInflammatory Bowel Disease
dc.subjectLong-Term Follow-Up
dc.titleEvolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency
dc.typeArticle

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