Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report

Yıl: 2021 Cilt: 19 Sayı: 1 Sayfa Aralığı: 50 - 55 Metin Dili: İngilizce DOI: 10.21911/aai.587
hred

Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report

Öz:
Oculocutaneous albinism (OCA) is a disorder of melanin biosynthesis characterized by hypopigmentation of the skin, hair, and retinalpigment epithelium. We present the clinical and laboratory features of two siblings, born to consanguineous Turkish parents, who werediagnosed with autosomal recessive OCA type 7. We detected a homozygous mutation in the C10ORF11 gene (p.A23Rfs * 39) in bothpatients. Interestingly, the medical history revealed that both patients had suffered from recurrent respiratory tract infections since birth.The patients were investigated for suspected immunodeficiency and the results of the immune screening assays were normal. We believethese patients are noteworthy to report since presentation with infections has not been described in the prior descriptions of OCA type7. As of this current writing, infectious problems have stopped in one of our cases since the age of five and a half years.
Anahtar Kelime:

Konular:
Fen > Tıp > Alerji
Fen > Tıp > İmmünoloji
Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
  • 1. Gambella JF, Carrasco-Munoz EM, Nunez Negrillo AM. Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or Calé-a study of 83 cases. Coll Antropol 2013; 37:723-34.
  • 2. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis 2007;2:43.
  • 3. Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP, et al. Mutations in c10orf11, a melanocytedifferentiation gene, cause autosomal-recessive albinism. Am J Hum Genet 2013;92:415-21.
  • 4. Bella J, Hindle KL, McEwan PA, Lovell SC. The leucine-rich repeat structure. Cell Mol Life Sci 2008;65:2307-33.
  • 5. Bataille P, Michaud V, Robert MP, Bekel L, Leclerc-Mercier S, Harrocheet A, et al. Clinical variability and probable founder effect in oculocutaneous albinism type 7. Clinical Genetics 2020;97:527-8.
  • 6. Kamaraj B, Purohit R. Mutational analysis of oculocutaneous albinism: A compact review. Biomed Res Int 2014;2014:905472.
  • 7. Creel D, O’Donnell FE, Witkop CJ. Visual system anomalies in human ocular albinos. Science 1978;201:931-3.
  • 8. Bouzas EA, Caruso RC, Drews-Bankiewicz MA, Kaiser-Kupfer MI. Evoked potential analysis of visual pathways in human albinism. Ophthalmology 1994;101:309-14.
  • 9. Ng A, Xavier RJ. Leucine-rich repeat (LRR) proteins: Integrators of pattern recognition and signaling in immunity. Autophagy 2011;7:1082-4.
  • 10. Ng AC, Eisenberg JM, Heath RJ, Huett A, Robinson CM, Nau GJ, et al. Human leucine-rich repeat proteins: A genome-wide bioinformatic categorization and functional analysis in innate immunity. Proc Natl Acad Sci 2011;108:4631-8.
  • 11. Wada S, Hamada M, Kobayashi K, Satoh N. Novel genes involved in canonical Wnt/beta-catenin signaling pathway in early Ciona intestinalis embryos. Develop Growth Differ 2008;50:215-27.
  • 12. Hari L, Brault V, Kléber M, Lee HY, Ille F, Leimeroth R, et al. Lineage-specific requirements of beta-catenin in neural crest development. J Cell Biol 2002;159:867-80.
  • 13. Clevers H, Nusse R. Wnt/beta-catenin signaling and disease. Cell 2012; 149:1192–205.
  • 14. Silva-Garcia O, Valdez-Alarcon JJ, Baizabal-Aguirre VM. The Wnt/beta-catenin signaling pathway controls the inflammatory response in infections caused by pathogenic bacteria. Mediators Inflamm 2014; 2014:310183.
  • 15. Perez EE, Orange JS, Bonilla F, Chinen J, Chinn IK, Dorsey M, et al. Update on the use of immunoglobulin in human disease: A review of evidence. J Allergy Clin Immunol 2017;139:1-46.
  • 16. Lee ST, Nicholls RD, Bundey S, Laxova R, Muscarella M, Spritz RA: Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994;330:529-34.
  • 17. Tey HL. A practical classification of childhood hypopigmentation disorders. Acta Derm Venereol 2010;90:6-11.
  • 18. Scheinfeld NS. Syndromic albinism: A review of genetics and phenotypes. Dermatol Online J 2003;9:5.
APA YILDIRIM H, KILIÇ M, TAŞKIN E, ŞEN A, ÖZCAN M (2021). Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji, 19(1), 50 - 55. 10.21911/aai.587
Chicago YILDIRIM Hakan,KILIÇ Mehmet,TAŞKIN Erdal,ŞEN Aşkın,ÖZCAN Mehmet Hazar Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji 19, no.1 (2021): 50 - 55. 10.21911/aai.587
MLA YILDIRIM Hakan,KILIÇ Mehmet,TAŞKIN Erdal,ŞEN Aşkın,ÖZCAN Mehmet Hazar Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji, vol.19, no.1, 2021, ss.50 - 55. 10.21911/aai.587
AMA YILDIRIM H,KILIÇ M,TAŞKIN E,ŞEN A,ÖZCAN M Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji. 2021; 19(1): 50 - 55. 10.21911/aai.587
Vancouver YILDIRIM H,KILIÇ M,TAŞKIN E,ŞEN A,ÖZCAN M Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report. Astım Allerji İmmünoloji. 2021; 19(1): 50 - 55. 10.21911/aai.587
IEEE YILDIRIM H,KILIÇ M,TAŞKIN E,ŞEN A,ÖZCAN M "Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report." Astım Allerji İmmünoloji, 19, ss.50 - 55, 2021. 10.21911/aai.587