Abstract

Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, diarrhoea, alopecia, and failure to thrive. The recombination activating enzymes RAG1 and RAG2 have a crucial role in both B and T cells development. The majority of mutations are missense mutations in recombination activating genes RAG1 and RAG2. We report a 4 months old Saudi girl with a novel homozygous deletion mutation in recombination activating gene 1.

Keywords: Omenn Syndrome

References

  1. 1.Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol 2008; 122: 1082–1086.
  2. 2.Junyan Zhang, Linda Quintal, Adelle Atkinson, Brent Williams, Eyal Grunebaum, Chaim M. Roifman. Novel RAG1 Mutation in a Case of Severe Combined 46 Case Report MAJMAAH JOURNAL OF HEALTH SCIENCE, Vol 2, Issue 2, 2014 Immunodeficiency. Pediatrics 2005; 116:3 e445-e449.
  3. 3.Brown L, Xu-Bayford J, Allwood Z, Slatter M, Cant A, Davies EG et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood 2011; 117:3243-6.
  4. 4.Krenger W, Blazar BR, Hollander GA. Thymic T-cell development in allogeneic stem cell transplantation. Blood 2011, 117, 6768–6776.
  5. 5.Schatz DG, Swanson PC. V(D)J recombination: mechanisms of initiation. Annu Rev Genet 2011; 45, 167–202.
  6. 6.Omenn G. Familial reticuloendotheliosis with eosinophilia. N Engl J Med 1965; 273:427e32.
  7. 7.Kato M, Kimura H, Seki M, Shimada A, Hayashi Y, Morio T et al. “Omenn syndrome—review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan,” Allergol Int 2006; 55: 115–119.
  8. 8.Chia-Chi Hsu, Julia Yu-Yun Lee, Sheau-Chiou Chao. Omenn syndrome: a case report and review of literature. Derm Sinica 2011; 29: 50-54.
  9. 9.Al-Herz W, Nanda A. Skin manifestations in primary immunodeficient children. Pediatr Dermatol 2011; 28:494-501.
  10. 10.Zhang J, Quintal L, Atkinson A, Williams B, Grunebaum E, Roifman CM. Novel RAG1 mutation in a case of severe combined immunodeficiency. Pediatrics 2005; 116:e445-e459.
  11. 11.Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, et al. The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events. Hum Mutat 2010; 31:197-207.
  12. 12.Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, et al. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol 2006; 176:5060–5068
  13. 13.Zago CA, Jacob CM, de Albuquerque Diniz EM, Lovisolo SM, Zerbini MC, Dorna M et al. Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. Hum Immunol 2014; 75:662-6
  14. 14.Avni Y. Joshi, Erin K. Ham, Neel B. Shah, Xiangyang Dong, Shakila P. Khan, and Roshini S. Abraham. Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. Case Reports in Immunology 2012; 10.1155/2012/919241. doi:10.1155/2012/919241
  15. 15.Roifman C, Gu Y and Cohen A. Mutations in the RNA component of RNase mitochondrial RNA processing might cause. J Allergy Clin Immunol 2006: 897-903.
  16. 16.Gennery A, Slatter M, Rice J, Hoefsloot L, Barge D, McLean-Tooke A et al. Mutations in CHD7 in patients with CHARGE syndrome cause TB+ natural killer. Clin Exp Immunol 2008; 153:75-80.
  17. 17.Alsmadi O, Al-Ghonaium A, Al-Muhsen S, Arnaout R, Al-Dhekri H, Al-Saud B, et al . BMC Med Genet 2009; 10:116.
  18. 18.Mohammed Al Balwi, Sulaiman Al Ajaji, Ibrahim Al Abdulkareem and Ali Hajeer. Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome. Cases Journal 2009; 2:8391. Saudi Infant with atypical Omenn Syndrome, Al-Suhaibani MA 47
Majmaah Journal of Health Sciences · eISSN 1658-8223 · Majmaah University · open access