Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu

Sitotoksik T-lenfosit antijen-4 (CTLA-4) haplo yetmezliği, immün kontrol noktası inhibitör moleküllerinden birinin kusuru olup, immün disregülasyon ile karakterize primer immün yetmezlik olarak tanımlanır. Otoimmun hemolitik anemi, otoimmun trombositopeni ve hipogammaglobulinemi tanıları olan 26 yaşında kadın hasta, yürümede güçlük, idrarda sıkışma hissi ve gaita inkontinansı yakınmaları ile başvurdu. Nörolojik muayenede sol alt ekstremitede hafif güçsüzlük, piramidal ve derin duyu tutulumu vardı. Beyin MRG’de periventriküler, jukstakortikal ve serebellar enflamatuar lezyonlar, torasik spinal MRG’de uzunlamasına geniş kord lezyonu görüldü. Ek olarak, toraks BT’de parankimal opasiteler ve bilateral hiler lenf nodları gösterildi. Mediastendeki lenf nodu ve akciğer parankiminden alınan biyopsi sonucunda düşük dereceli lenfoprofileratif süreç ve grade 1 “Lenfomatoid granulomatozis” saptandı. Ayrıntılı laboratuvar analizler ile “yaygın değişken immün yetmezlik” tanısı konuldu. Primer immün yetmezlik paneli ile yeni nesil dizileme ile CTLA-4’te (c.436G> A (p.G146R) (p.Gly146Arg)) heterozigot mutasyon gösterildi. Moleküler tanıdan sonra, subkutan immünoglobulin tedavisi ile birlikte hedefe yönelik tedavi yaklaşımı olarak abatasept tedavisi başlandı.

Anahtar Kelime:

A Rare Central Nervous System Involvement Due to CTLA-4 Gene Defect

Öz:

Cytotoxic T-lymphocyte antigen-4 (CTLA-4) haploinsufficiency is the defect of one of the checkpoint inhibitory molecules and defined as a primary immunodeficiency characterized by immune dysregulation. A 26-year-old female with a history of autoimmune hemolytic anemia, autoimmune thrombocytopenia, and hypogammaglobulinemia was admitted with an inability to walk, urinary hesitancy, and bowel incontinence. Neurological examination revealed mild weakness, pyramidal, and deep sensorial involvement of the left lower extremity. Brain MRI revealed periventricular, juxtacortical, and cerebellar inflammatory lesions. Thoracic spinal MRI showed a longitudinaly extensive cord lesion. Additionally, thoracal CT showed parenchymal opacities and bilateral hilar lymph nodes. The biopsy from mediastinal lymph nodes and lung parenchyma demonstrated a low-grade lymphoproliferation and grade 1 “Lymphomatoid granulomatosis”. Detailed laboratory analyses indicated the diagnosis of ‘’common variable immunodeficiency’’. Next-generation sequencing with primary immunodeficiency panel revealed a heterozygous mutation in CTLA- 4 (c.436G>A(p.G146R)(p.Gly146Arg)). After molecular diagnosis, abatacept therapy was started as a targeted therapeutic approach with subcutaneous immunoglobulin therapy.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	Rovshanov S, Gocmen R, Barista I, Çağdaş D, Uner A, CILINGIR V, TEZER FILIK F, Tan C, Soyak Aytekin E, Tezcan İ, Acar Ozen N, Tuncer a (2022). Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. , 248 - 252. 10.29399/npa.27900
Chicago	Rovshanov Sahib,Gocmen Rahsan,Barista Ibrahim,Çağdaş Deniz,Uner Aysegul,CILINGIR VEDAT,TEZER FILIK F. IRSEL,Tan Cagman,Soyak Aytekin Elif,Tezcan İlhan,Acar Ozen Nazire Pinar,Tuncer aslı Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. (2022): 248 - 252. 10.29399/npa.27900
MLA	Rovshanov Sahib,Gocmen Rahsan,Barista Ibrahim,Çağdaş Deniz,Uner Aysegul,CILINGIR VEDAT,TEZER FILIK F. IRSEL,Tan Cagman,Soyak Aytekin Elif,Tezcan İlhan,Acar Ozen Nazire Pinar,Tuncer aslı Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. , 2022, ss.248 - 252. 10.29399/npa.27900
AMA	Rovshanov S,Gocmen R,Barista I,Çağdaş D,Uner A,CILINGIR V,TEZER FILIK F,Tan C,Soyak Aytekin E,Tezcan İ,Acar Ozen N,Tuncer a Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. . 2022; 248 - 252. 10.29399/npa.27900
Vancouver	Rovshanov S,Gocmen R,Barista I,Çağdaş D,Uner A,CILINGIR V,TEZER FILIK F,Tan C,Soyak Aytekin E,Tezcan İ,Acar Ozen N,Tuncer a Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. . 2022; 248 - 252. 10.29399/npa.27900
IEEE	Rovshanov S,Gocmen R,Barista I,Çağdaş D,Uner A,CILINGIR V,TEZER FILIK F,Tan C,Soyak Aytekin E,Tezcan İ,Acar Ozen N,Tuncer a "Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu." , ss.248 - 252, 2022. 10.29399/npa.27900
ISNAD	Rovshanov, Sahib vd. "Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu". (2022), 248-252. https://doi.org/10.29399/npa.27900

APA	Rovshanov S, Gocmen R, Barista I, Çağdaş D, Uner A, CILINGIR V, TEZER FILIK F, Tan C, Soyak Aytekin E, Tezcan İ, Acar Ozen N, Tuncer a (2022). Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. Nöropsikiyatri Arşivi, 59(3), 248 - 252. 10.29399/npa.27900
Chicago	Rovshanov Sahib,Gocmen Rahsan,Barista Ibrahim,Çağdaş Deniz,Uner Aysegul,CILINGIR VEDAT,TEZER FILIK F. IRSEL,Tan Cagman,Soyak Aytekin Elif,Tezcan İlhan,Acar Ozen Nazire Pinar,Tuncer aslı Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. Nöropsikiyatri Arşivi 59, no.3 (2022): 248 - 252. 10.29399/npa.27900
MLA	Rovshanov Sahib,Gocmen Rahsan,Barista Ibrahim,Çağdaş Deniz,Uner Aysegul,CILINGIR VEDAT,TEZER FILIK F. IRSEL,Tan Cagman,Soyak Aytekin Elif,Tezcan İlhan,Acar Ozen Nazire Pinar,Tuncer aslı Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. Nöropsikiyatri Arşivi, vol.59, no.3, 2022, ss.248 - 252. 10.29399/npa.27900
AMA	Rovshanov S,Gocmen R,Barista I,Çağdaş D,Uner A,CILINGIR V,TEZER FILIK F,Tan C,Soyak Aytekin E,Tezcan İ,Acar Ozen N,Tuncer a Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. Nöropsikiyatri Arşivi. 2022; 59(3): 248 - 252. 10.29399/npa.27900
Vancouver	Rovshanov S,Gocmen R,Barista I,Çağdaş D,Uner A,CILINGIR V,TEZER FILIK F,Tan C,Soyak Aytekin E,Tezcan İ,Acar Ozen N,Tuncer a Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu. Nöropsikiyatri Arşivi. 2022; 59(3): 248 - 252. 10.29399/npa.27900
IEEE	Rovshanov S,Gocmen R,Barista I,Çağdaş D,Uner A,CILINGIR V,TEZER FILIK F,Tan C,Soyak Aytekin E,Tezcan İ,Acar Ozen N,Tuncer a "Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu." Nöropsikiyatri Arşivi, 59, ss.248 - 252, 2022. 10.29399/npa.27900
ISNAD	Rovshanov, Sahib vd. "Santral Sinir Sisteminin CTLA-4 Gen Defekti İlişkili Nadir Tutulumu". Nöropsikiyatri Arşivi 59/3 (2022), 248-252. https://doi.org/10.29399/npa.27900