Browsing by Author "Keles, Sevgi"

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    Abatacept as a long-term targeted therapy for LRBA deficiency
    (Elsevier, 2019-12) Kiykim, Ayça; Ogulur, İsmail; Dursun, Esra; Dogruel, Dilek; Karaca, Neslihan Edeer; Cogurlu, Mujde Tuba; Bilir, Ozlem Arman; Cansever, Murat; Kapakli, Hasan; Baser, Dilek; Kasap, Nurhan; Kutlug, Seyhan; Altintas, Derya Ufuk; Al-Shaibi, Ahmad; Agrebi, Nourhen; Kara, Manolya; Guven, Ayla; Somer, Ayper; Aydogmus, Cigdem; Ayaz, Nuray Aktay; Metin, Ayse; Aydogan, Metin; Uncuoglu, Aysen; Patiroglu, Turkan; Yildiran, Alisan; Guner, Sukru Nail; Keles, Sevgi; Reisli, Ismail; Aksu, Guzide; Kutukculer, Necil; Yilmaz, Mustafa; Karakoc-Aydiner, Elif; Lo, Bernice; Ozan, Ahmet; Chatila, Talal A.; Barıs, Safa; Çekiç, Şükrü; Kılıç, Sara Şebnem; Uludağ Üniversitesi/Tıp Fakültesi/Dahili Bilimler/Çocuk Sağlığı ve Hastalıkları; Uludağ Üniversitesi/Tıp Fakültesi/Dahili Bilimler/Çocuk Sağlığı ve Hastalıkları; 0000-0002-9574-1842; 0000-0001-8571-2581; L-1933-2017; 57094682600; 7102365439
    BACKGROUND: LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. The long-term efficacy of cytotoxic T-lymphocyte-associated antigen 4-immunoglobulin (abatacept) as targeted therapy for its immune dysregulatory features remains to be established. OBJECTIVE: To determine the clinical and immunologic features of LRBA deficiency and long-term efficacy of abatacept treatment in controlling the different disease manifestations. METHODS: Twenty-two LRBA-deficient patients were recruited from different immunology centers and followed prospectively. Eighteen patients on abatacept were evaluated every 3 months for long-term clinical and immunologic responses. LRBA expression, lymphocyte subpopulations, and circulating T follicular helper cells were determined by flow cytometry. RESULTS: The mean age of the patients was 13.4 +/- 7.9 years, and the follow-up period was 3.4 +/- 2.3 years. Recurrent infections (n = 19 [86.4%]), immune dysregulation (n = 18 [81.8%]), and lymphoproliferation (n = 16 [72.7%]) were common clinical features. The long-term benefits of abatacept in 16 patients were demonstrated by complete control of lymphoproliferation and chronic diarrhea followed by immune dysregulation, most notably autoimmune cytopenias. Weekly or every other week administration of abatacept gave better disease control compared with every 4 weeks. There were no serious side effects related to the abatacept therapy. Circulating T follicular helper cell frequencies were found to be a reliable biomarker of disease activity, which decreased on abatacept therapy in most subjects. However, high circulating T follicular helper cell frequencies persisted in 2 patients who had a more severe disease phenotype that was relatively resistant to abatacept therapy. CONCLUSIONS: Long-term abatacept therapy is effective in most patients with LRBA deficiency.
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    The middle east and north africa diagnosis and management guidelines for inborn errors of immunity
    (Elsevier, 2023-01-05) Barış, Safa; Abolhassani, Hassan; Massaad, Michel J.; Al-Nesf, Maryam; Chavoshzadeh, Zahra; Keles, Sevgi; Reisli, Ismail; Tahiat, Azzeddine; Shendi, Hiba Mohammad; Abd Elaziz, Dalia; Belaid, Brahim; Al Dhaheri, Fatima; Haskologlu, Sule; Dogu, Figen; Ben-Mustapha, Imen; Sobh, Ali; Galal, Nermeen; Meshaal, Safa; Elhawary, Rabab; El-marsafy, Aisha; Alroqi, Fayhan J.; Al-Saud, Bandar; Al-Ahmad, Mona; Al Farsi, Tariq; AL Sukaiti, Nashat; Al-Tamemi, Salem; Mehawej, Cybel; Dbaibo, Ghassan; ElGhazali, Gehad; Kilic, Sara Sebnem; Genel, Ferah; Kiykim, Ayca; Musabak, Ugur; Artac, Hasibe; Güner, Şükrü Nail; Boukari, Rachida; Djidjik, Reda; Kechout, Nadia; Cagdas, Deniz; El-Sayed, Zeinab Awad; Karakoc-Aydiner, Elif; Alzyoud, Raed; Barbouche, Mohamed Ridha; Adeli, Mehdi; Wakim, Rima Hanna; Reda, Shereen M.; Ikinciogullari, Aydan; Ozen, Ahmet; Bousfiha, Aziz; Al-Mousa, Hamoud; Rezaei, Nima; Al-Herz, Waleed; Geha, Raif S.; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünolojisi ve Romatoloji Anabilim Dalı.; AAH-1658-2021
    Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis can be challenging and depends on the available human expertise and laboratory resources. The Middle East and North Africa (MENA) region has an increased prevalence of IEI because of the high rate of consanguinity with a predominance of autosomal recessive disorders. This area also exhibits more severe disease phenotypes compared with other regions, probably due to the delay in diagnosis. The MENA-IEI registry network has designed protocols and guidelines for the diagnosis and treatment of IEI, taking into consideration the variable regional expertise and resources. These guidelines are primarily meant to improve the care of patients within the region, but can also be followed in other regions with similar patient pop-ulations. (c) 2022 American Academy of Allergy, Asthma & Immunology