Browsing by Author "KÖSE, HÜLYA"

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    Publication
    Can ikaros mutation lead to intellectual disability?
    (Wiley, 2022-01-17) Köse, Hülya; Kılıç, Sara Şebnem; KÖSE, HÜLYA; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı; 0000-0001-8571-2581; 0000-0002-5727-4075; LBH-2414-2024; AAH-1658-2021
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    Publication
    Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
    (Academic Press Inc Elsevier Science, 2022-11-01) Jamee, Mahnaz; Azizi, Gholamreza; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kilic, Sara S.; Kose, Hulya; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Momen, Tooba; Shamsian, Bibi Shahin; Fallahi, Mazdak; Sharafian, Samin; Gulez, Nesrin; Aygun, Ayse; Karaca, Neslihan Edeer; Kutukculer, Necil; Al Sukait, Nashat; Al Farsi, Tariq; Al-Tamemi, Salem; Khalifa, Nisreen; Shereen, Reda; El-Ghoneimy, Dalia; El-Owaidy, Rasha; Radwan, Nesrine; Alzyoud, Raed; Barbouche, Mohamed-Ridha; Ben-Mustapha, Imen; Mekki, Najla; Rais, Afef; Boukari, Rachida; Belbouab, Reda; Djenouhat, Kamel; Tahiat, Azzeddine; Touri, Souad; Elghazali, Gehad; Al-Hammadi, Suleiman; Shendi, Hiba Mohammed; Alkuwaiti, Amna; Belaid, Brahim; Djidjik, Reda; Artac, Hasibe; Adeli, Mehdi; Sobh, Ali; Elnagdy, Marwa H.; Bahgat, Sara A.; Nasrullayeva, Gulnara; Chou, Janet; Rezaei, Nima; Al-Herz, Waleed; Geha, Raif S.; Abolhassani, Hassan; KILIÇ GÜLTEKİN, SARA ŞEBNEM; KÖSE, HÜLYA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Alerji ve İmmünoloji Bilim Dalı.; 0000-0002-5727-4075 ; JHC-2536-2023; LBH-2414-2024
    Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated. 343 MIDD patients (58% males and 42% female) at a median (IQR) age of 101 (42-192) months were enrolled. The most common defective genes were LRBA (23.9%), LYST (8.2%), and RAB27A (7.9%). The most prevalent initial and overall manifestations were infections (32.2% and 75.1%), autoimmunity (18.6% and 41%), and organomegaly (13.3% and 53.8%), respectively. Treatments included immunoglobulin replacement therapy (53%), hematopoietic stem cell transplantation (HSCT) (14.3%), immunosuppressives (36.7%), and surgery (3.5%). Twenty-nine (59.2%) patients survived HSCT. Along with infectious complications, autoimmunity and organomegaly may be the initial or predominant manifestations of MIDD.
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    Publication
    Neurological involvement in primary immunodeficiencies
    (Springer/plenum Publishers, 2022-04-01) KÖSE, HÜLYA; KARALI, ZUHAL; Çekiç, Şükrü; ÇEKİÇ, ŞÜKRÜ; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0002-9574-1842; 0000-0001-8571-2581; L-1933-2017; AAH-1658-2021