Five Patients With Two Novel Homozygous Variants in CD3 Subunits and Comprehensive Review of the Literature

Authors: Sonmez, Gamze ^a, Kazancıoglu, Alp ^b, Yazarkan, Yigit ^a, Tenekeci, Ates Kutay ^a, Yaz, Ismail ^c, Esenboga, Saliha ^b, Orhan, Diclehan ^d, van der Burg, Mirjam ^e, Sanal, Ozden ^b, Tezcan, Ilhan ^b, Cagdas, Deniz ^{b, c, ∗}

Source: In The Journal of Allergy and Clinical Immunology: In Practice March 2025

Characteristics of patients with low serum IgE levels and selective IgE deficiency: Data from an immunodeficiency referral center

Authors: Ünsal, Hilal, Ekinci, Ahsen, Aliyeva, Gülnar, Bildik, Hacer Neslihan, Esenboğa, Saliha, Çağdaş, Deniz

Source: In Clinical Immunology January 2025 270

Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update

Authors: Adelon, Jihane, Abolhassani, Hassan, Esenboga, Saliha, Fouyssac, Fanny, Cagdas, Deniz, Tezcan, Ilhan, Kuskonmaz, Barıs, Cetinkaya, Duygu, Suarez, Felipe, Mahdaviani, Seyed Alireza, Plassart, Samira, Mathieu, Anne-Laure, Fabien, Nicole, Malcus, Christophe, Morfin-Sherpa, Florence, Billaud, Geneviève, Tusseau, Maud, Benezech, Sarah, Walzer, Thierry, De Villartay, Jean-Pierre, Bertrand, Yves, Belot, Alexandre

Source: In The Journal of Allergy and Clinical Immunology November 2024 154(5):1300-1312

Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease

Authors: DeVore, Stanley B. ^{1, 2, 3}, Schuetz, Matthew ², Alvey, Lauren ¹, Lujan, Henry ², Ochayon, David E. ², Williams, Lindsey ², Chang, Wan Chi ², Filuta, Alyssa ², Ruff, Brandy ², Kothari, Arjun ², Hahn, Jennifer M. ⁴, Brandt, Eric ², Satish, Latha ^{1, 2}, Roskin, Krishna ⁵, Herr, Andrew B. ^{1, 6}, Biagini, Jocelyn M. ^{1, 2}, Martin, Lisa J. ^{1, 2, 7}, Cagdas, Deniz ⁸, Keles, Sevgi ⁹, Milner, Joshua D. ¹⁰, Supp, Dorothy M. ^{4, 11}, Khurana Hershey, Gurjit K. ^{1, 2, 12, ∗}

Source: In Cell Reports 27 August 2024 43(8)

The spectrum of side effects associated with COVID-19 vaccines in patients with inborn errors of immunity

Authors: Özdemiral, Cansu, Cevik, Nadira Nabiyeva, Yavuz, Gizem, Gormez, Onuralp, Zengin, Ayse Betül, Esenboga, Saliha, Karabulut, Erdem, Cagdas, Deniz

Source: In Clinical Immunology February 2024 259

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Authors: Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P., Cagdas, Deniz, Castelle, Martin, Chan, Alice Y., Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R., Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G., Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A., Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C., Burns, Siobhan, Seppänen, Mikko R.J., Neth, Olaf, Albert, Michael H., Ehl, Stephan, Neven, Bénédicte, Speckmann, Carsten

Source: In The Journal of Allergy and Clinical Immunology January 2024 153(1):275-286

Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective

Authors: Cagdas, Deniz, Ayasun, Ruveyda, Gulseren, Duygu, Sanal, Ozden, Tezcan, Ilhan

Source: In The Journal of Allergy and Clinical Immunology: In Practice October 2023 11(10):3030-3039

The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

Authors: Baris, Safa, Abolhassani, Hassan, Massaad, Michel J., Al-Nesf, Maryam, Chavoshzadeh, Zahra, Keles, Sevgi, Reisli, Ismail, Tahiat, Azzeddine, Shendi, Hiba Mohammad, Elaziz, Dalia Abd, 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, Guner, Sukru 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.

Source: In The Journal of Allergy and Clinical Immunology: In Practice January 2023 11(1):158-180

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Authors: Karaatmaca, Betul^1,2 (AUTHOR), Cagdas, Deniz^1,3 (AUTHOR) deniz.ayvaz@hacettepe.edu.tr, Esenboga, Saliha¹ (AUTHOR), Erman, Baran³ (AUTHOR), Tan, Cagman³ (AUTHOR), Turul Ozgur, Tuba¹ (AUTHOR), Boztug, Kaan^4,5,6,7,8 (AUTHOR), van der Burg, Mirjam⁹ (AUTHOR), Sanal, Ozden¹ (AUTHOR), Tezcan, Ilhan^1,3 (AUTHOR)

Source: Clinical & Experimental Immunology. Feb2024, Vol. 215 Issue 2, p160-176. 17p.

Subject Terms: *SEVERE combined immunodeficiency, *HEMATOPOIETIC stem cell transplantation, *THRUSH (Mouth disease)

Antimycobacterial prophylaxis regarding Bacillus Calmette-Guérin -associated complications in children with primary immunodeficiency

Authors: Ozsezen, Beste, Yalçın, Ebru, Ademhan Tural, Dilber, Sunman, Birce, Nayır Buyuksahin, Halime, Guzelkas, İsmail, Alboga, Didem, Aytekin, Elif Soyak, Esenboga, Saliha, Emiralioglu, Nagehan, Cagdas, Deniz, Doğru, Deniz, Özçelik, Uğur, Tezcan, Ilhan, Kiper, Nural

Source: In Respiratory Medicine August-September 2022 200

A patient with RFX5 variant causing an expression defect in both HLA ABC and HLA DR.

Authors: Goktas, Serdar, Sonmez, Gamze, Şahin, Ali, Çevik, Nadira Nabiyeva, Caka, Canan, Yaz, Ismail, Esenboga, Saliha, Cagdas, Deniz

Source: Immunologic Research; 4/16/2025, Vol. 73 Issue 1, p1-6, 6p

Challenge in a Malrotation Case: Presentation Mimicking Severe Combined Immunodeficiency.

Authors: Fathelbab, Jana¹ (AUTHOR), Cagdas, Deniz^2,3,4 (AUTHOR) deniz.ayvaz@hacettepe.edu.tr, Emet, Dicle Canoruc^3,4 (AUTHOR), Oguz, Berna⁵ (AUTHOR), Andiran, Fatih^3,6 (AUTHOR)

Source: Journal of Paediatrics & Child Health. Mar2025, p1. 4p. 3 Illustrations.

Subject Terms: *SEVERE combined immunodeficiency, *HEMATOPOIETIC stem cell transplantation, *IMMUNOSUPPRESSION, *INTESTINAL perforation, *CONGENITAL disorders

Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients

Authors: Torun, Basak, Bilgin, Ahmet, Orhan, Diclehan, Gocmen, Rahsan, Kılıc, Sebnem Sara, Kuskonmaz, Barıs, Cetinkaya, Duygu, Tezcan, Ilhan, Cagdas, Deniz

Source: In European Journal of Medical Genetics March 2022 65(3)

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Authors: Roos, Dirk, van Leeuwen, Karin, Hsu, Amy P., Priel, Debra Long, Begtrup, Amber, Brandon, Rhonda, Rawat, Amit, Vignesh, Pandiarajan, Madkaikar, Manesha, Stasia, Marie José, Bakri, Faris Ghalib, de Boer, Martin, Roesler, Joachim, Köker, Nezihe, Köker, M. Yavuz, Jakobsen, Marianne, Bustamante, Jacinta, Garcia-Morato, Maria Bravo, Shephard, Juan Luis Valdivieso, Cagdas, Deniz, Tezcan, Ilhan, Sherkat, Roya, Mortaz, Esmaeil, Fayezi, Abbas, Shahrooei, Mohammad, Wolach, Baruch, Blancas-Galicia, Lizbeth, Kanegane, Hirokazu, Kawai, Toshinao, Condino-Neto, Antonio, Vihinen, Mauno, Zerbe, Christa S., Holland, Steven M., Malech, Harry L., Gallin, John I., Kuhns, Douglas B.

Source: In Blood Cells, Molecules and Diseases December 2021 92

Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature

Authors: Cagdas, Deniz, Halacli, Sevil Oskay, Tan, Cagman, Esenboga, Saliha, Karaatmaca, Betül, Cetinkaya, Pınar Gur, Balcı-Hayta, Burcu, Ayhan, Arzu, Uner, Aysegul, Orhan, Diclehan, Boztug, Kaan, Ozen, Seza, Topaloglu, Rezan, Sanal, Ozden, Tezcan, Ilhan

Source: In The Journal of Allergy and Clinical Immunology: In Practice October 2021 9(10):3752-3766

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

Authors: Roos, Dirk, van Leeuwen, Karin, Hsu, Amy P., Priel, Debra Long, Begtrup, Amber, Brandon, Rhonda, Stasia, Marie José, Bakri, Faris Ghalib, Köker, Nezihe, Köker, M. Yavuz, Madkaika, Manisha, de Boer, Martin, Garcia-Morato, Maria Bravo, Shephard, Juan Luis Valdivieso, Roesler, Joachim, Kanegane, Hirokazu, Kawai, Toshinao, Di Matteo, Gigliola, Shahrooei, Mohammad, Bustamante, Jacinta, Rawat, Amit, Vignesh, Pandiarajan, Mortaz, Esmaeil, Fayezi, Abbas, Cagdas, Deniz, Tezcan, Ilhan, Kitcharoensakkul, Maleewan, Dinauer, Mary C., Meyts, Isabelle, Wolach, Baruch, Condino-Neto, Antonio, Zerbe, Christa S., Holland, Steven M., Malech, Harry L., Gallin, John I., Kuhns, Douglas B.

Source: In Blood Cells, Molecules and Diseases September 2021 90

APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity.

Authors: Aytekin, Elif Soyak¹ (AUTHOR), Cagdas, Deniz² (AUTHOR) deniz.ayvaz@hacettepe.edu.tr

Source: Scandinavian Journal of Immunology. Aug2023, Vol. 98 Issue 2, p1-15. 15p.

Subject Terms: *AUTOIMMUNE diseases, *HEMATOPOIETIC stem cell transplantation, *IMMUNOLOGICAL tolerance, *AUTOIMMUNITY

Indolent B-cell non-Hodgkin lymphomas in children: high association with inborn errors of immunity.

Authors: Kurucu, Nilgün, Kutluk, Tezer, Sağlam, Arzu, Cagdas, Deniz, Haliloğlu, Mithat, Salancı, Bilge Volkan, Aydın, Burça, Yalçın, Bilgehan, Varan, Ali, Üner, Ayşegül

Source: Leukemia & Lymphoma; Dec2024, Vol. 65 Issue 12, p1875-1882, 8p

Subject Terms: MUCOSA-associated lymphoid tissue lymphoma, CHILDHOOD cancer, NON-Hodgkin's lymphoma, FOLLICULAR lymphoma, LYMPHOMAS

Comparative analysis of protein expression profiles with genotypes in the diagnosis of Inborn Errors of Immunity.

Authors: Oskay Halacli, Sevil^1,2,3 (AUTHOR) sevil.oskay@hacettepe.edu.tr, Cagdas, Deniz^1,2,3 (AUTHOR), Esenboga, Saliha^1,2,3 (AUTHOR), Inan, Dilan¹ (AUTHOR), Yaz, Ismail¹ (AUTHOR), Cicek, Begum¹ (AUTHOR), Bildik, Hacer Neslihan¹ (AUTHOR), Tezcan, Ilhan^1,2,3 (AUTHOR)

Source: Scandinavian Journal of Clinical & Laboratory Investigation. Nov/Dec2024, Vol. 84 Issue 7/8, p547-556. 10p.

Subject Terms: *GENETIC variation, *PROTEIN analysis, *DIAGNOSTIC errors, *FLOW cytometry, *CELLULAR signal transduction

Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.

Authors: Solakoğlu, Taha, Sönmez, Gamze, Tenekeci, Ateş Kutay, Altunbüker, Hira, Akar, Halil Tuna, Tezcan, Feyzi İlhan, Cagdas, Deniz

Source: Turkish Journal of Pediatrics; Nov/Dec2024, Vol. 66 Issue 6, p786-791, 6p