142

 

 

1.      Aydemir S, Yeşil G, Aslanger AD, et al. A Novel GATA2 Splice-Site Mutation Associated with Familial Myelodysplastic Syndrome. Pediatr Allergy Immunol Pulmonol. 2026 Jul 1:2151321X261466350. doi: 10.1177/2151321X261466350.

2.      Aydin M, Aydemir S, Meric Z, et al. Granulomatous and Lymphocytic Interstitial Lung Disease in Hyper-IgM Syndrome. Scand J Immunol. 2025 Dec;102(6):e70074. doi: 10.1111/sji.70074.

3.      Aygun D, Koker MY, Nepesov S, et al. Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease. Int Arch Allergy Immunol. 2020;181(7):540-550. doi: 10.1159/000507366.

4.      Baris HE, Ogulur I, Akcam B, et al. Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3525-3534.e1. doi: 10.1016/j.jaip.2020.07.030.

5.      Barman P, Basu S, Goyal T, et al. Epstein-Barr virus- driven lymphoproliferation in inborn errors of immunity: a diagnostic and therapeutic challenge. Expert Rev Clin Immunol. 2024;20:1331–46.

6.      Biglari S, Moghaddam AS, Tabatabaiefar MA, et al. Monogenic etiologies of persistent human papillomavirus infections: a comprehensive systematic review. Genet Med. 2024;26:101028.

7.      Bodemer C, Sauvage V, Mahlaoui N, et al. Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency. Clin Microbiol Infect. 2014;20:O656–63.

8.      Buddingh EP, Slatter M, Becerra JCA, et al. Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging. J Hum Immun. 2025 Sep 1;1(3). doi: 10.70962/jhi.20250027.

9.      Calderón DO, Kilpatrick LE, Conil C, et al. Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humans. bioRxiv [Preprint]. 2026 Mar 25:2026.03.23.713554. doi: 10.64898/2026.03.23.713554.

10.  Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol. 2002;20:581-620.

11.  Cinicola BL, Uva A, Duse M, et al. Mucocutaneous candidiasis: insights into the diagnosis and treatment. Pediatr Infect Dis J. 2024;43(7):694–703.

12.  Conti F, Lugo-Reyes SO, Blancas Galicia L, et al. Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases. J Allergy Clin Immunol. 2016;138:241–e2483.

13.  Conti F, Marzollo A, Moratti M, et al. Inborn errors of immunity underlying a susceptibility to pyogenic infections: from innate immune system deficiency to complex phenotypes. Clin Microbiol Infect. 2022;28(11):1422-1428. doi:10.1016/j.cmi.2022.05.022

14.  Corbali O, Gemici Karaaslan HB, Aydemir S, et al. Immune Reconstitution Inflammatory Syndrome After Hematopoietic Stem Cell Transplantation in a FOXN1 -deficient Patient. J Pediatr Hematol Oncol. 2023 Jul 1;45(5):275-277. doi: 10.1097/MPH.0000000000002677.

15.  de Vries E; European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167(1):108-119. doi:10.1111/j.1365-2249.2011.04461.x

16.  Dotis J, Pana ZD, Roilides E. Non-­ aspergillus fungal infections in chronic granulomatous disease. Mycoses. 2013;56(4):449-462. doi:10.1111/myc.12049

17.  Drewniak A, Gazendam RP, Tool AT, et al. Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. Blood. 2013; 121:2385–2392.

18.  Ergenc Z, Eltan SB, Karaaslan BG, et al. Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye. Mycoses. 2025 Jul;68(7):e70086. doi: 10.1111/myc.70086.

19.  Esteghamati A, Khanaliha K, Bokharaei-Salim, et al. Prevalence of Intestinal Parasitic Infection in Cancer, Organ Transplant and Primary Immunodeficiency Patients in Tehran, Iran. Asian Pac J Cancer Prev. 2019;20(2):495-501. doi:10.31557/APJCP.2019.20.2.495

20.  Gelmez MY, Köksalan K, Çınar S, ve ark. IFN-γR1 (CD119) ve IL-12Rβ1 (CD212) Eksikliğinin Akan Hücre Ölçer ile Analizi [Analysis of IFN-γR1 (CD119) and IL-12Rβ1 (CD212) Deficiency by Flow Cytometry]. Mikrobiyol Bul. 2023 Jan;57(1):83-96. Turkish. doi: 10.5578/mb.20239907.

21.  Gemici Karaaslan B, Benamar M, Ulas S, et al. A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families. J Clin Immunol. 2026;46(1):49. doi:10.1007/s10875-026-02012-2

22.  Gemici Karaaslan B, Rosain J, Bustamante J, Kıykım A. Interferon Gamma in Sickness Predisposing to Mycobacterial Infectious Diseases. Balkan Med J. 2024;41(5):326-332. doi:10.4274/balkanmedj.galenos.2024.2024-8-18

23.  George K, Govindaraj G. Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review. Pathogens. 2023;12(2):272. doi:10.3390/pathogens12020272

24.  Grammatikos A, Mangtani A, Ponsford M, et al. Chronic Norovirus infection in immunodeficiency: A UK National case series. J Allergy Clin Immunol Pract. 2025;S2213-2198:00198-9.

25.  Gulec Koksal Z, Bilgic Eltan S, Topyildiz E et al. MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort. J Allergy Clin Immunol Pract. 2024 Sep;12(9):2490-2502.e6. doi: 10.1016/j.jaip.2024.06.046.

26.  Halliday E, Winkelstein J, Webster AD. Enteroviral infections in primary immunodeficiency (PID): a survey of morbidity and mortality. J Infect. 2003;46:1–8.

27.  Herber M, Mertz P, Dieudonné Y, et al. Primary immunodeficiencies and lymphoma: a systematic review of literature. Leuk Lymphoma. 2020;61:274–84.

28.  Kainulainen L, Vuorinen T, Rantakokko-Jalava K, et al. Recurrent and persistent respiratory tract viral infections in patients with primary hypogammaglobulinemia. J Allergy Clin Immunol. 2010;126:120–6.

29.  Karaaslan BG, Demirkale ZH, Turan I, et al. Evaluation of T-cell repertoire by flow cytometric analysis in primary immunodeficiencies with DNA repair defects. Scand J Immunol. 2025 Feb;101(2):e70003. doi: 10.1111/sji.70003.

30.  Karadeniz EB, Aliyeva C, Aydemir S, et al. Chronic Rhinosinusitis in Patients with Primary Immunodeficiency. Int Arch Allergy Immunol. 2023;184(3):302-310. doi: 10.1159/000527265.

31.  Karakoc Aydiner E, Bilgic Eltan S, Babayeva R, et al. Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses. Allergy. 2022 Jan;77(1):282-295. doi: 10.1111/all.15025.

32.  Karanovic D, Michelow IC, Hayward AR, et al. Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies. Front Immunol. 2019;10:77. doi:10.3389/fimmu.2019.00077

33.  Kiykim A, Eker N, Surekli O, et al. Malignancy and lymphoid proliferation in primary immune deficiencies; hard to define, hard to treat. Pediatr Blood Cancer. 2020 Feb;67(2):e28091. doi: 10.1002/pbc.28091.

34.  Kolukisa B, Baser D, Akcam B, et al. Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency. Allergy. 2022 Mar;77(3):1004-1019. doi: 10.1111/all.15010.

35.  Lanternier F, Cypowyj S, Picard C, et al. Primary immunodeficiencies underlying fungal infections. Curr Opin Pediatr. 2013;25(6):736-747. doi:10.1097/MOP.0000000000000031

36.  Lévy R, Gothe F, Momenilandi M, et al. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275.

37.  Meher-­ Homji Z, Mangalore RP, et al. Chromobacterium violaceum infection in chronic granulomatous disease: a case report and review of the literature. JMM Case Rep. 2017;4(1):e005084. doi:10.1099/jmmcr.0.005084

38.  Meric Z, Aydemir S, Kilic Baskan A, et al. Atypical Mycobacterial Pneumonia in 2 Siblings with a Novel Hypomorphic NEMO/IKBKG Mutation. Turk Arch Pediatr. 2024 Nov 1;59(6):605-607. doi: 10.5152/TurkArchPediatr.2024.24087.

39.  Meric Z, Aydin M, Demir Gumus D, et al. Understanding and Managing Hyper IgE Syndromes. Immunotargets Ther. 2025 Nov 5;14:1233-1245. doi: 10.2147/ITT.S532287.

40.  Meric Z, Gemici Karaaslan B, Yalcin Gungoren E, et al. Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity. Pediatr Allergy Immunol. 2024 Jun;35(6):e14171. doi: 10.1111/pai.14171.

41.  Moratti M, Conti F, Giannella M, et al. How to: Diagnose inborn errors of intrinsic and innate immunity to viral, bacterial, mycobacterial, and fungal infections. Clin Microbiol Infect. 2022;28(11):1441-1448. doi:10.1016/j.cmi.2022.07.021

42.  Natkunam Y, Gratzinger D, Chadburn A, et al. Immunodeficiency-associated lymphoproliferative disorders: time for reappraisal? Blood. 2018;132:1871–8.

43.  Poli MC, Aksentijevich I, Bousfiha AA, et al. Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee. J Hum Immun. 2025;1(1):e20250003. doi:10.70962/jhi.20250003

44.  Ponsford MJ, Price C, Farewell D, et al. Increased respiratory viral detection and symptom burden among patients with primary antibody deficiency: results from the BIPAD study. J Allergy Clin Immunol Pract. 2021;9:735–e7446.

45.  Reilly L, Emonts M. Recurrent or unusual infections in children - when to worry about inborn errors of immunity. Ther Adv Infect Dis. 2023;10:20499361231162978. doi:10.1177/20499361231162978

46.  Rosain J, Kiykim A, Michev A, et al. Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency. J Clin Immunol. 2024 Feb 16;44(3):62. doi: 10.1007/s10875-024-01661-5.

47.  Seidel MG, Kindle G, Gathmann B, et al. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract 2019; 7: 1763–1770.

48.  Shafer S, Yao Y, Comrie W, et al. Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency. J Allergy Clin Immunol. 2021 Jul;148(1):256-261.e2. doi: 10.1016/j.jaci.2020.12.629.

49.  Shaghaghi M, Soleyman-Jahi S, Abolhassani H, et al. New insights into physiopathology of immunodeficiency-associated vaccine-derived poliovirus infection; systematic review of over 5 decades of data. Vaccine. 2018;36:1711–9.

50.  Thalhammer J, Kindle G, Nieters A, et al. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations. J Allergy Clin Immunol. 2021;148(5):1332-1341.e5. doi:10.1016/j.jaci.2021.04.015

51.  Uitto J, Saeidian AH, Youssefian L, et al. Recalcitrant warts, epidermodysplasia verruciformis, and the tree-man syndrome: phenotypic spectrum of cutaneous human papillomavirus infections at the intersection of genetic variability of viral and human genomes. J Invest Dermatol. 2022;142:1265–9.

52.  Yıldız E. Beyond Tuberculosis: The Growing Threat of Nontuberculous Mycobacteria. Balkan Med J. 2023;40:384-385.

53.  Zerbe CS, Holland SM. Functional neutrophil disorders: Chronic granulomatous disease and beyond. Immunol Rev. 2024;322(1):71-80. doi:10.1111/imr.13308

54.  Zhang D, Wanat KA, Perelygina L, et al. Cutaneous granulomas associated with Rubella virus: a clinical review. J Am Acad Dermatol. 2024;90:111–21.

55.  Zheng S, Lowe DM. Current infectious disease management challenges in inborn errors of immunity. Ann Clin Microbiol Antimicrob. 2025;24(1):60. doi:10.1186/s12941-025-00830-7

ideasoft e-ticaret paketleri ile hazırlandı.