Ferah Genel, M.D.
31.01.2019

Prof. Dr. Ferah Genel

Professional address:

University of Health Sciences İzmir Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital

Division of Pediatric Immunology and Allergy

Izmir-TURKEY

Education:

1982-1988 MD, Ege University, School of Medicine, Izmir

1989-1993 Resident in Department of Pediatrics Ege University School of Medicine

2000-2003 Pediatric Immunology fellowship at Ege University, School of Medicine

Interested in; Primary Immune Deficiencies, flow cytometric analysis

PUBLICATIONS

  1. Tütüncüoğlu, S., F. Özkınay, F. Genel, N. Uran, T. Özgür, “A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation,” Clin. Genet., 49, 220-222 (1996).
  2. Genel, F., F. Atlıhan, M. Bak, S. Targan, C. Dizdarer, “ Arthritis in a patient with homozygous familial hypercholesterolemia,” Acta Paediatr. Jpn., 39, 362-363 (1997).
  3. Arslanoğlu, S., M. Hızarcıoğlu, F. Genel, “Spondyloepiphyseal dysplasia tarda with progressive arthropathy: an important form of osteodysplasia in the differential diagnosis of juvenile rheumatoid arthritis,”  Pediatr. Int., 42, 561-563 (2000).
  4. Genel, F., S. Arslanoğlu, B. Durmaz , M. Bak, “ Primary IgA nephropathy in children: association of clinical and pathological findings with prognosis,” Indian J. Pediatr., 68, 409-412 (2001).
  5. Dayıoğlu, O., F. Atlıhan, D. Can, M. Bak, F. Genel, S. Targan. “Value of Neuron-specific enolase level in serebrospinal fluid in evaluating the prognosis of asphyxiated neonates,” J. Trop. Pediatr., 48, 60-61 (2002).
  6. Atlıhan, F., B. Akagündüz, F. Genel, M. Bak, D. Can, “Procalcitonin, a marker of neonatal sepsis,” J. Trop. Pediatr., 48, 10-14 (2002).
  7. Genel, F., S. Arslanoglu, N. Uran, B. Saylan, “Sydenham’s chorea: clinical findings and comparison of the efficacies of sodium valproate and carbamazepine regimens,” Brain  Dev., 24, 73-76 (2002).
  8. Ünal, F., F. Genel, F. Özgenç, G. Aksu, S. Aydoğdu, N. Kütükçüler, R.V. Yağcı, “Immune status and autoantibody formation in children with chronic Hepatitis B infection,” Panminerva Med., 44, 353-357 (2002).
  9. Genel, F., S Erermis, G. Aksu, N. Kutukculer, “Quinacrine-induced psychiatric disturbances in a child with common variable immunodeficiency and chronic giardiasis,” Hum. Psychopharmacol., 17, 357-359 (2002).
  10. Kutukculer, N., G.Aksu, F. Genel, C Ozturk, “Idiopathic CD4+ T cell lymphocytopenia with the absence of B cells and CD8+28+ cells in peripheral blood,”Clin. Exp. Med.,2, 143-146 (2002).
  11. Genel, F., S. Arslanoğlu, F. Atlıhan, R. Bozabali, Ş. Targan, G. Yuncu, “An unusual case of hydatid cyst presenting with multiple pulmonary nodules,” Minerva Pneumologica, 41, 187-190 (2002).
  12. Genel, F., F. Ünal, F. Özgenç, G. Aksu, S. Aydoğdu, N. Kütükçüler, R.V. Yağcı, “Decreased ratio of CD4/CD8 lymphocytes might be predictive for successful interferon alpha and lamivudine combined therapy in childhood chronic Hepatitis B virus infection: A preliminary study,” J. Gastroenterol. Hepatol., 18, 645-650 (2003).
  13. Buduneli, E., F. Genel, G. Atilla, N. Kutukculer, “Evaluation of p53, bcl-2, and interleukin-15 levels in gingival crevicular fluid of cyclosporin A treated patients,” J. Periodontol., 74, 506-511 (2003).
  14. Genel, F., N. Kutukculer, “Prospective, Randomized comparison of OM-85 BV and prophylactic antibiotic in children with recurrent infections and IgA and/or G subclass deficiency,” Curr. Ther. Res. Clin. Exp., 64, 600-615 (2003).
  15. Aksu, G., N. Kütükçüler, F. Genel, C. Vergin, Omowaire B. “Gricelli syndrome without hemophagocytosis in an eleven-year-old girl: Expanding the phenotypic spectrum of Rab27A mutations in humans,” Am. J. Med. Genet., 116A, 329-333 (2003).
  16. Kutukculer, N.,  D. Moratto, Y. Aydınok, V. Lougaris, S. Aksoylar,  A. Plebani, F. Genel, L.D. Notarangelo, “Disseminated Cryptosporidium infection in an infant with Hyper-IgM syndrome caused by CD40 deficiency, “J. Pediatr., 142, 194-196 (2003).
  17. Genel, F., S. Arslanoğlu, N. Uran, M. Doğan, F.  Atlıhan, “Late-onset distal polyneuropathy due to acute organophosphate intoxication,” Turk. J. Pediatr., 45, 67-70 (2003).
  18. Genel, F., S. Arslanoğlu, M.  Hızarcıoğlu, B. Durmaz, N. Uran, S. Aktaş, “Steroid myopathy in a child with juvenile rheumatoid arthritis,” Panminerva Med., 45, 75-77 (2003).
  19. Akisu, M., M. Yalaz, G. Aksu, S. Arslanoğlu, F. Genel, N. Kütükçüler, N. Kültürsay, “Maternally acquired Varicella- Zoster virus antibodies disappear at 6 months of age in prematurely born children,” Panminerva Med., 45, 155-156 (2003).
  20. Ozgenc, F., G. Aksu, S. Aydogdu, S. Akman, F. Genel, N. Kutukculer, M.B. Alkanat, R.V. Yagcı, “Association between anti-endomysial antibody and total intestinal villous atrophy in children with celiac disease,” J. Postgrad. Med., 49, 21-24 (2003).
  21. Genel, F., A. Cevik, A. Erbay, H. Gulen, N. Uran, C. Vergin, “Acute T-cell lymhoblastic leukemia as a presenting finding of ataxia-telangiectasia,” Ann. Trop. Paediatr., 24, 193-194 (2004).
  22. Genel, F., F. Atlıhan, S. Targan, N. Gulez, S. Hacıkara, I. Karaca, “Fulminant amoebiasis in a child with recurrent multiple amoebic liver abscesses and pleuropulmonary complications,” Ann Trop Paediatr., 24, 267-9 (2004).
  23. Büyükyazı, G., N. Kutukculer, N. Kutlu, F. Genel, G. Karadeniz, N. Ozkutuk, “Differences in the cellular and humoral immune system between middle-aged men with different intensity and duration of physically training,” J Sports Med Phys Fitness., 44, 207-14 (2004).
  24. Genel, F., F. Atlıhan, D. Ozdemir, S. Targan, “Development of hydrocephalus in a patient with Joubert syndrome,” J Postgrad Med.,50, 153 (2004).
  25. Ozkan, H., F. Atlıhan, F. Genel, S. Targan, T. Gunvar, “IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage,” J Investig Allergol Clin Immunol., 15, 69-74. (2005).
  26. Genel F, Sjöholm AG, Skattum L, Truedsson L. Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis. Scand J Infect Dis., 37, 615-618 (2005).
  27. Aksu G, Genel F, Koturoğlu G, Kurugöl Z, Kütükçüler N.  Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr., 48, 19-24 (2006).
  28. Kutukculer N, Genel F, Aksu G, Karapinar B, Ozturk C, Cavusoglu C, Casanova JL, Fieschi C.  Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency. J Pediatr., 148, 407-9 (2006).
  29. Genel F, Atlihan F, Gulez N, Sjöholm AG, Skattum L, Truedsson L. Properdin deficiency in a boy with fulminant meningococcal septic shock. Acta Paediatr., 95, 1498-1500. (2006).
  30. Aksu G, Ozturk C, Kavakli K, Genel F, Kutukculer N. Hypercoagulability: interaction between inflammation and coagulation in familial Mediterranean fever. Clin Rheumatol., 26, 366-70. Epub 2006 May 24. (2007)
  31. Bustamante J, Aksu G, Vogt G, de Beaucoudrey L, Genel F, Chapgier A, Filipe-Santos O, Feinberg J, Emile JF, Kutukculer N, Casanova JL. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J Allergy Clin Immunol., 120, 32-8. Epub 2007 Jun 4. (2007)
  32. Karaca NE, Aksu G, Genel F, Gulez N, Can S, Aydinok Y, Aksoylar S, Karaca E, Altuglu I, Kutukculer N. Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. Clin Exp Med., 9, 339-42 (2009).
  33. Asilsoy S, Bilgili G, Turul T, Dizdarer C, Kalkan S, Yasli H, Can D, Genel F, Sanal O. Interleukin-12/-23 receptor beta 1 deficiency in an infant with draining BCG lymphadenitis. Pediatr Int., 51, 310-2 (2009).
  34. Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjöholm AG, Truedsson L, Villoutreix BO, Blom AM. Genetic, molecular and functional analyses of complement factor I deficiency. Eur J Immunol., 39, 310-23 (2009).
  35. Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, Camcioglu Y, Cokugras H, Somer A, Kutukculer N, Yilmaz M, Ikinciogullari A, Yegin O, Yüksek M, Genel F, Kucukosmanoglu E, Baki A, Bahceciler NN, Rambhatla A, Nickerson DW, McGhee S, Barlan IB, Chatila T. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol., 124, 342-8, 348.e1-5 (2009).
  36. Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038.
  37. Devrim I, Genel F, Atlıhan F, Ozbek E, Gulfidan G. Risk Factors for Vancomycin-Resistant Enterococci Colonization in infants in Neonatal Intensive Care Unit. Central European Journal Of Medicine DOI: 10.2478/s 11536-009-0073-y (2009).
  38. Genel F, Atlihan F, Ozsu E, Ozbek E. Monocyte HLA-DR expression as predictor of poor outcome in neonates with late onset neonatal sepsis. J Infect. 2010; 60: 224-8.
  39. Gulez N, Genel F, Atlihan F, Gullstrand B, Skattum L, Schejbel L, Garred P, Truedsson L. Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency. J Investig Allergol Clin Immunol 2010; 20: 255-8.
  40. Schejbel L, Skattum L, Hagelberg S, Åhlin A, Schiller B, Berg S, Genel F, Truedsson L, Garred P. Molecular basis of hereditary C1q deficiency--revisited:identification of several novel disease-causing mutations. Genes Immun. 2011 Dec;12(8):626-34.
  41. Nita IM, Genel F, Nilsson SC, Smart J, Truedsson L, Choo S, Blom AM. Molecular characterization of two novel cases of complete complement inhibitor Factor I deficiency. Mol Immunol. 2011 Apr;48(8):1068-72.
  42. Genel F, Atlihan F, Gulez N, Kazanci E, Vergin C, Terek DT, Yurdun OC. Evaluation of adhesion molecules CD64, CD11b and CD62L in neutrophils and monocytes of peripheral blood for early diagnosis of neonatal infection. World J Pediatr. 2012 Feb;8(1):72-5.
  43. Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, Peker E, Atmaca M, Genel F, Bozabali S, Akin H, Ozkinay C. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol. 2012 Oct;34(7):541-4.
  44. Saniye Girit, Ferah Genel, Demet Can, Mustafa Bak, Michael Hershfield. Case of purine nucleoside phosphorylase deficiency presented with hematuria. Open Journal of Pediatrics, 2012, 2, 268-271.
  45. Azarsiz E, Karaca NE, Gunaydin NC, Gulez N, Ozturk C, Aksu G, Genel F, Kutukculer N. Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia? Int J Immunopathol Pharmacol. 2014 Jul-Sep;27(3):421-7.
  46. Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.J Allergy Clin Immunol. 2015 Feb 25. pii: S0091-6749(15)00071-8.  doi:10.1016/j.jaci.2014.12.1945.
  47. Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH; inborn errors working party of EBMT. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015 Feb;35(2):189-98. 
  48. Ferah Genel, Erhan Ozbek, Gulcihan Ozek, Canan Vergin, Ragip Ortac, Ines Santisteban, Michael Hershfield. Adenosine Deaminase-Deficient Severe Combined Immunodeficiency and Diffuse Large B-Cell Lymphoma. Pediatric Allergy, Immunology, and Pulmonology 28: 138-142, 2015.
  49. Erdem Bahcecı S, Genel F, Gulez N, Nacaroglu H.T. Coexistence of hereditary angioedema in a case of familial Mediterranean fever with partial response to colchicine. Centr Eur J Immunol 2015; 40 (1): 115-116.
  50. Yilmaz IZ, Erdur BC, Ozbek E, Mese T, Karaarslan U, Genel F. Neurodevelopmental evaluation of children with cyanotic congenital heart disease.Minerva Pediatr. 2015 Jun 4. [Epub ahead of print]
  51. Van Schaarenburg RA, Schejbel L, Truedsson L, Topaloglu R, Al-Mayouf SM, Riordan A, Simon A, Kallel-Sellami M, Arkwright PD, Åhlin A, Hagelberg S, Nielsen S, Shayesteh A, Morales A, Tam S, Genel F, Berg S, Ketel AG, Merlijn van den Berg J, Kuijpers TW, Olsson RF, Huizinga TW, Lankester AC, Trouw LA. Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency. J Autoimmun. 2015 Aug;62:39-44. doi: 10.1016/j.jaut.2015.06.002. Epub 2015 Jun 26.
  52. S. Bahçeci, F. Genel, B. Erdur, E. Özbek, N. Gülez, T Meşe. Asplenia in children with congenital heart disease as a cause of poor outcome. Central European Journal of Immunology. 2015, Vol. 40 Issue 2, p266-269. 4p.
  53. Ahu Kara, Ilker devrim, Nuri Bayram, Hurşit Apa, Ferah
    Genel. Abdominal Tuberculosis in a Child With Interleukin-12 Receptor Beta 1 Deficiency. Infectious Diseases in Clinical Practice. 24(2):105, March 2016.
  54. Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium, Alkuraya FS, Casanova JL, Gleeson JG. Collaborators: Rahim SA, Abdel-Hadi S, Abdel-Salam G, Abdel-Salam E, Abdou M, Abhytankar A, Adimi P, Ahmad J, Akcakus M, Aksu G, Hajjar SA, Juamaah SA, Muhsen SA, Sannaa NA, Tameni SA, Al-Aama J, Al-Allawi N, Al-Baradie R, Al-Gazali L,Al-Hashem A, Al-Herz W, Al-Jeaid D, Al-Tawari A, Alangari A, Alcais A, S AlFawaz T, Alsum Z, Ammar-Khodja A, Amouian S, Arikan C, Aryani O, Aslanger A, Aydogmus C, Aytekin C, Azam M, Bansagi B, Barbouche MR, Bastaki L, Ben-Omran T, Bindu PS, Blancas L, Boisson-Dupuis S, Bonnet D, Stambouli OB, Bousfiha A, Boussafara L,Boutros J, Bustamante J, Caksen H, Camcioglu Y, Catherinot E, Celik FC, Ciancanelli M, Cipe FE, Clark G, Cobat A, Comu S, Condie A, Condino-Neto A, Desai M, Dobyns W, Dogu F, Domaia M, Dorum M, Egritas O, Azbaoui SE, Baghdadi JE, Ruby ME, El-Harouni A, Elfeky RA, Elghazali G, Faqeih E, Fenerci E, Fieschi C, Funda C, Gamal I, Gelik U, Genel F, et al. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016 Sep;48(9):1071-6.
  55. Karaca NE, Aksu G, Ulusoy E, Aksoylar S, Gozmen S, Genel F, Akarcan S, Gulez N, Hirschmugl T, Kansoy S, Boztug K, Kutukculer N. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases. Case Reports Immunol. 2016;2016:5459029.
  56. Oner T, Ozdemir R, Genc DB, Kucuk M, Karadeniz C, Demirpence S, Yilmazer MM, Mese T, Tavli V, Genel F. Parameters indicative of persistence of valvular pathology at initial diagnosis in acute rheumatic carditis: the role of albumin and CD19 expression. J Pediatr (Rio J). 2016; 92(6):581-587.
  57. Keles S, Charbonnier LM, Kabaleeswaran V, Reisli I, Genel F, Gulez N, Al-Herz W, Ramesh N, Perez-Atayde A, Karaca NE, Kutukculer N, Wu H, Geha RS, Chatila TA. Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T(H)17 cell differentiation. J Allergy Clin Immunol. 2016; 138(5):1384-1394.
  58. Baysal BT, Baysal B, Genel F, Erdur B, Ozbek E, Demir K, Ozkan B. Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey.Indian Pediatr. 2017 May 15;54(5):381-384. Epub 2017 Mar 29.
  59. Karaman S, Erdem SB, Gülez N, Genel F. The Significance of B-cell Subsets in Patients with Unclassified Hypogammaglobulinemia and Association with Intravenous Immunoglobulin Replacement Requirement. Iran J Immunol. 2018;15:1-13.
  60. Pfajfer L, Mair NK, Jiménez-Heredia R, Genel F, Gulez N, Ardeniz Ö, Hoeger B, Bal SK, Madritsch C, Kalinichenko A, Chandra Ardy R, Gerçeker B, Rey-Barroso J, Ijspeert H, Tangye SG, Simonitsch-Klupp I, Huppa JB, van der Burg M, Dupré L, Boztug K, Mutations affecting the actin regulator WDR1 lead to aberrant lymphoid immunity, Journal of Allergy and Clinical Immunology (2018), Nov;142(5):1589-1604.e11.
  61. Genel F, Erdem SB, Gülez N, Karaman S, Nacaroglu HT, Skattum L, Truedsson L. Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience. Iran J Immunol. 2018;15 :309-320.
  62. Kutukculer N, Aykut A, Karaca NE, Durmaz A, Aksu G, Genel F, Pariltay E, Cogulu Ö, Azarsız E. Chronic granulamatous disease: two decades of experience from a pediatric immunology unit in a country with high rate of consangineous marriages. Scand J Immunol. 2018 Dec 1:e12737. doi: 10.1111/sji.12737.
  63. Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.
  64. Karaca NE, Severcan EU, Bilgin BG, Azarsiz E, Akarcan S, Gunaydın NC, Gulez N, Genel F, Aksu G, Kutukculer N. Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients. Int J Immunopathol Pharmacol. 2018 Jan-Dec;32:2058738418779458. doi: 10.1177/2058738418779458.