Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: Results from a specialized research center for immunodeficiency in Türkiye

Baran Erman; İlhan Tezcan; Aydan İkincioğulları; Safa Barış; Dilara Fatma Kocacık Uygun; Elif Soyak Aytekin; Elif Arık; Betül Karaatmaca; Hülya Köse; Uğur Muşabak; İsmail Reisli; Elif Karakoç-Aydıner; Ayça Kıykım; Figen Doğu; Dilek Özcan; Gökhan Cildir; Ercan Küçükosmanoğlu; Mahmut Cesur; Caner Aytekin; Zafer Bıcakcı; Saliha Esenboğa; Deniz Çağdaş; Asena Pınar Sefer; Gülsan Türköz Sucak; Fatih Çelmeli; Funda Çipe; Damla Pehlivan; Sara Şebnem Kılıç; Çiğdem Aydoğmuş; Ahmet Özen; Sevgi Keleş; Sevgi Bilgiç Eltan; Ümran Aba; Canberk İpşir; Melisa Kaya; Ayşe Metìn; Mehmet Kılıç; Özlem Keskin; Sidem Tekeoglu; Nazlı Deveci Demirbaş; Begüm Çiçek; Sukru Nail Guler; Ceren Bozkurt; Tuğba Arıkoğlu; Şule Haskoloğlu; Mutlu Yüksek

doi:10.21203/rs.3.rs-4058291/v1

Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: Results from a specialized research center for immunodeficiency in Türkiye

Baran Erman(Hacettepe University), İlhan Tezcan(Hacettepe University Hospital), Aydan İkincioğulları(Ankara University), Safa Barış(Marmara University), Dilara Fatma Kocacık Uygun(Akdeniz University), Elif Soyak Aytekin, Elif Arık(Gaziantep Onkoloji Hastanesi), Betül Karaatmaca(Sağlık Bilimleri Üniversitesi), Hülya Köse(Dicle University), Uğur Muşabak(Başkent University), İsmail Reisli(Necmettin Erbakan University), Elif Karakoç-Aydıner(Marmara University), Ayça Kıykım(Marmara University), Figen Doğu(Ankara University), Dilek Özcan(Cukurova University), Gökhan Cildir(South Australia Pathology), Ercan Küçükosmanoğlu(Gaziantep University), Mahmut Cesur(Gaziantep University), Caner Aytekin(Ministry of Health), Zafer Bıcakcı(Atatürk University), Saliha Esenboğa(Hacettepe University), Deniz Çağdaş(Hacettepe University), Asena Pınar Sefer(Şanlıurfa Mehmet Akif İnan Eğitim ve Araştırma Hastanesi), Gülsan Türköz Sucak(Bahçeşehir University), Fatih Çelmeli(Antalya Eğitim ve Araştırma Hastanesi), Funda Çipe(Altınbaş University), Damla Pehlivan(Hacettepe University), Sara Şebnem Kılıç(Bursa Uludağ Üni̇versi̇tesi̇), Çiğdem Aydoğmuş(Sağlık Bilimleri Üniversitesi), Ahmet Özen(Marmara University), Sevgi Keleş(Necmettin Erbakan University), Sevgi Bilgiç Eltan(Marmara University), Ümran Aba(Hacettepe University), Canberk İpşir(Hacettepe University), Melisa Kaya(Hacettepe University), Ayşe Metìn(Sağlık Bilimleri Üniversitesi), Mehmet Kılıç(Fırat University), Özlem Keskin(Gaziantep University), Sidem Tekeoglu(Hacettepe University), Nazlı Deveci Demirbaş(Ankara University), Begüm Çiçek(Hacettepe University), Sukru Nail Guler(Necmettin Erbakan University), Ceren Bozkurt(Hacettepe University), Tuğba Arıkoğlu(Mersin Üniversitesi), Şule Haskoloğlu(Ankara University), Mutlu Yüksek(Zonguldak Bülent Ecevit University)

Research Square

March 11, 2024

10.21203/rs.3.rs-4058291/v1

Cited by 0

Related Papers

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

|Cell|2000|1.6k

Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

|Cell|2001|901

A circRNA from SEPALLATA3 regulates splicing of its cognate mRNA through R-loop formation

|Nature Plants|2017|607

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

|Journal of Allergy and Clinical Immunology|2017|313

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

|The American Journal of Human Genetics|2008|307