Abstract
Omenn syndrome (OS) is a type of severe combined immunodeficiency (SCID) that is distinguished by, lymphadenopathy, hepatosplenomegaly, erythroderma, alopecia with normal to elevated T-cell counts, eosinophilia, and elevated serum IgE levels. Recombination activation gene (RAG) 1 or RAG2 mutations that result in partial V(D)J recombination activity are known to be the main cause of OS. Other genes (DCLRE1C, LIG4, IL7RA, common gamma chain, ADA, RMRP, and CHD7) have also been linked to OS, although with low frequency. Here, we report a two-month-old Moroccan girl from consanguineous marriage with chronic diarrhea, recurrent and opportunistic infections, failure to thrive, desquamative erythroderma, hepatosplenomegaly, and axillary lymphadenitis. The immunological assessment showed normal lymphocyte and NK cell counts but an absence of B cells, agammaglobulinemia contrasting with a high level of IgE. On the other hand, Sanger sequencing of RAG1 and RAG2 exon 2 regions revealed a new homozygous deleterious mutation in the RAG1 gene. This c.1184C > T mutation caused a change from Proline to Leucine at position 395 of the protein, leading to a partial loss of function. Early and rapid diagnosis of the disease may facilitate urgent l...Continue Reading
References
Oct 25, 1989·Nucleic Acids Research·J GrimbergA Eisenberg
Jun 18, 1998·Cell·A VillaE Spanopoulou
Aug 19, 1965·The New England Journal of Medicine·G S OMENN
Feb 26, 2005·Blood·Markus EgeUlrich Pannicke
Feb 24, 2006·The Journal of Pediatrics·Silvia GilianiFrancoise Le Deist
Apr 25, 2006·The Journal of Allergy and Clinical Immunology·Chaim M RoifmanAmos Cohen
Feb 5, 2008·The Journal of Allergy and Clinical Immunology·Chaim M RoifmanKaren Mandel
Jun 19, 2008·Blood·Taizo WadaAkihiro Yachie
Sep 5, 2008·The Journal of Immunology : Official Journal of the American Association of Immunologists·Serre-Yu WongDavid B Roth
Oct 11, 2008·The Journal of Allergy and Clinical Immunology·Eyal GrunebaumChaim M Roifman
Apr 28, 2009·Nature Structural & Molecular Biology·Fang Fang YinDavid G Schatz
Oct 16, 2009·Cases Journal·Mohammed Al BalwiAli Hajeer
Nov 17, 2009·BMC Medical Genetics·Osama AlsmadiHamoud Al-Mousa
Jul 21, 2011·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Zhi-Yong ZhangXi-Qiang Yang
Dec 3, 2013·The Journal of Allergy and Clinical Immunology·William T ShearerMorton J Cowan
Jul 18, 2015·PloS One·Christoph B GeierHermann M Wolf
Aug 4, 2015·Annals of the New York Academy of Sciences·Emilia CirilloClaudio Pignata
Oct 20, 2015·Immunologic Research·Xiaoming BaiXiaodong Zhao
Nov 26, 2015·Journal of Clinical Immunology·Svetlana O SharapovaOlga V Aleinikova
May 8, 2018·Viruses·Jinxin MiaoZhongde Wang
Sep 15, 2019·Molecular Biology Reports·Fereshteh SalariMohammad Nabavi
Oct 22, 2019·Frontiers in Genetics·Juan ShenWeiping Tan