Browsing by Author "Karakoc-Aydiner, Elif"

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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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    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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    Consensus Middle East and North Africa registry on inborn errors of immunity
    (Springer/plenum Publishers, 2021-05-29) Aghamohammadi, Asghar; Rezaei, Nima; Yazdani, Reza; Delavari, Samaneh; Kutukculer, Necil; Topyildiz, Ezgi; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kose, Hulya; Gulez, Nesrin; Genel, Ferah; Reisli, Ismail; Djenouhat, Kamel; Tahiat, Azzeddine; Boukari, Rachida; Ladj, Samir; Belbouab, Reda; Ferhani, Yacine; Belaid, Brahim; Djidjik, Reda; Kechout, Nadia; Attal, Nabila; Saidani, Khalissa; Barbouche, Ridha; Bousfiha, Aziz; Sobh, Ali; Rizk, Ragheed; Elnagdy, Marwa H.; Al-Ahmed, Mona; Al-Tamemi, Salem; Nasrullayeva, Gulnara; Adeli, Mehdi; Al-Nesf, Maryam; Hassen, Amel; Mehawej, Cybel; Irani, Carla; Megarbane, Andre; Quinn, Jessica; Marodi, Laszlo; Modell, Vicki; Modell, Fred; Al-Herz, Waleed; Geha, Raif S.; Abolhassani, Hassan; Kilic, Sara Sebnem; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0002-9454-1603; 0000-0001-6390-1074; 0000-0002-6338-6946; 0000-0002-8403-6128; 0000-0003-4150-5200; 0000-0001-8571-2581; 0000-0002-3343-6949; 0000-0001-8247-6405; 0000-0001-7047-076X; 0000-0002-7232-2629; 0000-0002-3051-3080; 0000-0001-9354-0214; 0000-0002-7209-9359; 0000-0002-7706-3910; 0000-0003-0714-2469; 0000-0002-6019-3751; 0000-0002-7394-1640; Q-6160-2016; IWD-5692-2023; B-4167-2009; R-6749-2017; ABD-5574-2021; HOF-7252-2023; AAH-1658-2021; ABF-5609-2020; AFU-4460-2022; JVE-0572-2024; GMX-2732-2022; IQU-2494-2023; KLE-3682-2024; HKN-1599-2023; B-3465-2014; HHT-0915-2022; IZE-1770-2023; P-3381-2019; T-7687-2017; AFF-7478-2022; M-4655-2018; F-5958-2017; N-5668-2017
    Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. Methods We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. Results We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). Conclusions This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.
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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