Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
Patients with defects in RAC2-associated regulators of actin usually present with late-onset symptoms due to normal immune profiles, but a higher rate of EBV and HPV infections, autoimmune cytopenia, asthma, and lymphoproliferation compared to defects in the CDC42 pathway. The severity of mutations in patients of the CDC42 group helps to estimate the prognosis of the disease and prioritization of HSCT.
Authors
- Zeynep Meric (ORCID: https://orcid.org/0000-0003-1792-1570)
- Neslihan Edeer Karaca (ORCID: https://orcid.org/0000-0002-2202-7082)
- Safa Barış (ORCID: https://orcid.org/0000-0002-4730-9422)
- Waleed Al–Herz (ORCID: https://orcid.org/0000-0003-4244-4489)
- Samaneh Delavari (ORCID: https://orcid.org/0000-0003-0122-0657)
- Najla Mekki (ORCID: https://orcid.org/0000-0002-5842-9147)
- Hülya Köse (ORCID: https://orcid.org/0000-0002-5727-4075)
- Mehmet Faruk Geyik (ORCID: https://orcid.org/0000-0001-5373-8007)
- Vahide Zeinali (ORCID: https://orcid.org/0000-0001-5431-8557)
- Mohamed‐Ridha Barbouche (ORCID: https://orcid.org/0009-0009-4145-8644)
- Şükrü Nail Güner (ORCID: https://orcid.org/0000-0002-8860-6132)
- Carla Irani (ORCID: https://orcid.org/0000-0002-7706-3910)
- Ferah Genel (ORCID: https://orcid.org/0000-0002-9976-067X)
- Rachida Boukari (ORCID: https://orcid.org/0000-0003-1833-8002)
- Sule Haskologlu
- İsmail Reisli (ORCID: https://orcid.org/0000-0001-8247-6405)
- Nima Rezaei (ORCID: https://orcid.org/0000-0002-3836-1827)
- Elif Karakoç-Aydıner (ORCID: https://orcid.org/0000-0003-4150-5200)
- André Mégarbané (ORCID: https://orcid.org/0000-0003-0714-2469)
- Brahim Belaid (ORCID: https://orcid.org/0000-0001-7618-4051)
- Ayça Aslan Kıykım (ORCID: https://orcid.org/0000-0001-5821-3963)
- Nashat Alsukaiti
- Figen Doğu (ORCID: https://orcid.org/0000-0002-7869-4941)
- Amna Alkuwaiti
- Ali Sobh (ORCID: https://orcid.org/0000-0001-7047-076X)
- Reda Belbouab
- Nisreen Khalifa
- Mehrnaz Mesdaghi (ORCID: https://orcid.org/0000-0001-7951-0967)
- Necil Kutukculer
- Salem Al‐Tamemi (ORCID: https://orcid.org/0000-0002-7232-2629)
- Loı̈c Dupré (ORCID: https://orcid.org/0000-0002-7278-6503)
- Raed Alzyoud (ORCID: https://orcid.org/0000-0002-4972-5809)
- Narges Eslami (ORCID: https://orcid.org/0000-0003-4629-7201)
- Nesrin Gülez (ORCID: https://orcid.org/0000-0002-3343-6949)
- Marwa H. Elnagdy (ORCID: https://orcid.org/0000-0002-5542-1684)
- Güzide Aksu (ORCID: https://orcid.org/0000-0003-2714-0903)
- Bibi Shahin Shamsian
- Hamid Ahanchian (ORCID: https://orcid.org/0000-0003-3532-7428)
- Réda Djidjik (ORCID: https://orcid.org/0000-0003-0820-692X)
- Cybel Mehawej (ORCID: https://orcid.org/0000-0002-7209-9359)
- Saba Fekrvand (ORCID: https://orcid.org/0000-0001-7091-9651)
- Tooba Momen (ORCID: https://orcid.org/0000-0001-6302-8420)
- Samin Sharafian (ORCID: https://orcid.org/0000-0002-2037-0274)
- Gulnara Nasrullayeva
- Michel J. Massaad (ORCID: https://orcid.org/0000-0003-3696-0217)
- Kamel Djenouhat
- Gehad ElGhazali (ORCID: https://orcid.org/0000-0001-9514-3765)
- Azzeddine Tahiat (ORCID: https://orcid.org/0000-0003-3272-8904)
- Sara Sebnem Kilic Gultekin
- Ahmet Özen
- Ayşe Aygun
- Zahra Chavoshzadeh (ORCID: https://orcid.org/0000-0003-1869-8630)
- Sevgi Keleş (ORCID: https://orcid.org/0000-0001-7344-8947)
- Imen Ben‐Mustapha (ORCID: https://orcid.org/0000-0002-3526-2890)
- Hossein Esmaeilzadeh
- Hiba Mohammed Shendi
- Meriem Ben‐Ali
- Hassan Abolhassani
- Aydan Ikincioğullari
- Shahrzad Fallah
- H D Ochs
- Fereshte Salami
- Saliha Hakem
- Soheila Aleyasin
- Roya Sherkat (ORCID: https://orcid.org/0000-0002-8574-2091)
- Tariq Alfars
- Hedieh Khodaverdy
Institutions
- Isfahan University of Medical Sciences (IR)
- Centre National de la Recherche Scientifique (FR)
- Seattle Children's Hospital (US)
- Bursa Uludağ Üni̇versi̇tesi̇ (TR)
- Ankara University (TR)
- Mansoura University (EG)
- Mashhad University of Medical Sciences (IR)
- Saint Joseph University (LB)
- Azerbaijan Medical University (AZ)
- University of Algiers Benyoucef Benkhedda (DZ)
- Shiraz University of Medical Sciences (IR)
- University of Washington (US)
- Jordan Hospital (JO)
- Shaikh Khalifa Medical City (AE)
- Karolinska Institutet (SE)
- Kuwait University (KW)
- Ege University (TR)
- Tawam Hospital (AE)
- Children's Hospital Mansoura University (EG)
- Dr. Behçet Uz Çocuk Hastalıkları Hastanesi (TR)
- Toulouse Mathematics Institute (FR)
- American University of Beirut Medical Center (LB)
- University of Algiers 3 (DZ)
- Necmettin Erbakan University (TR)
- Istanbul University-Cerrahpaşa (TR)
- Children's Medical Center (IR)
- Sağlık Bilimleri Üniversitesi (TR)
- Al-Sabah Hospital (KW)
- Fondation Jérôme-Lejeune (FR)
- Institut Pasteur de Tunis (TN)
- Sultan Qaboos University Hospital (OM)
- Hôtel-Dieu de France (LB)
- Hôpital Mustapha Pacha (DZ)
- Jeffrey Modell Foundation (AU)
- Alzahra Medical and Education Center (IR)
- Sultan Qaboos University (OM)
- Arabian Gulf University (BH)
- Lebanese American University (LB)
- Shahid Beheshti University of Medical Sciences (IR)
- Tunis El Manar University (TN)
- Istanbul University (TR)
- Tehran University of Medical Sciences (IR)
- Marmara University (TR)
- Medical University of Vienna (AT)
- American University of Beirut (LB)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-08
- DOI
- https://doi.org/10.3389/fgene.2025.1584681
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Karolinska Institutet