A newly found homozygous mutation in recombination activating gene 1 in a patient with leaky severe combined immunodeficiency disorder

2019 ◽  
Vol 46 (6) ◽  
pp. 6571-6575
Author(s):  
Fereshteh Salari ◽  
Fatemeh Zaremehrjardi ◽  
Saba Arshi ◽  
Mohammad Hassan Bemanian ◽  
Morteza Fallahpour ◽  
...  
Keyword(s):  
Severe Combined Immunodeficiency ◽  
Homozygous Mutation ◽  
Combined Immunodeficiency ◽  
Immunodeficiency Disorder ◽  
Recombination Activating Gene

Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene

2003 ◽  
Vol 108 (2) ◽  
pp. 159-166 ◽  
Author(s):  
Norimoto Kobayashi ◽  
Kazunaga Agematsu ◽  
Haruo Nagumo ◽  
Kozo Yasui ◽  
Yoshihiko Katsuyama ◽  
...  
Keyword(s):  
T Cells ◽  
Cd4 T Cells ◽  
Severe Combined Immunodeficiency ◽  
Homozygous Mutation ◽  
Combined Immunodeficiency

scholarly journals Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency

2014 ◽  
Vol 176 (3) ◽  
pp. 380-386 ◽  
Author(s):  
A. Lev ◽  
A. J. Simon ◽  
J. Ben-Ari ◽  
D. Takagi ◽  
T. Stauber ◽  
...  
Keyword(s):  
T Cells ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Recombination Activating Gene

Molecular Detection of Severe Combined Immunodeficiency Disorder in Arabian Horses in Egypt

2018 ◽  
Vol 68 ◽  
pp. 55-58 ◽  
Author(s):  
Nahla A. AbouEl Ela ◽  
Khalid A. El-Nesr ◽  
Hanaa A. Ahmed ◽  
Samantha A. Brooks
Keyword(s):  
Molecular Detection ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Immunodeficiency Disorder

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

Gene ◽  
2013 ◽  
Vol 512 (2) ◽  
pp. 189-193 ◽  
Author(s):  
Ender Karaca ◽  
Elif Karakoc-Aydiner ◽  
Omer Faruk Bayrak ◽  
Sevgi Keles ◽  
Serhat Sevli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Immunodeficiency Disorder ◽  
Turkish Family

Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt

2015 ◽  
Vol 158 (2) ◽  
pp. 167-173 ◽  
Author(s):  
Safa Meshaal ◽  
Rabab El Hawary ◽  
Marwa Elsharkawy ◽  
Reem K. Mousa ◽  
Reem J. Farid ◽  
...  
Keyword(s):  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Recombination Activating Gene

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy

2013 ◽  
Vol 132 (1) ◽  
pp. 222-223 ◽  
Author(s):  
Joyce Geelen ◽  
Rolph Pfundt ◽  
Judith Meijer ◽  
Frans W. Verheijen ◽  
Andre B.P. van Kuilenburg ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Severe Combined Immunodeficiency ◽  
Uniparental Disomy ◽  
Homozygous Mutation ◽  
Combined Immunodeficiency ◽  
Adenosine Deaminase Deficiency ◽  
Severe Phenotype

A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis

2019 ◽  
Vol 84 (6) ◽  
pp. 272-278
Author(s):  
Soukaina Essadssi ◽  
Ibtihal Benhsaien ◽  
Amina Bakhchane ◽  
Hicham Charoute ◽  
Houria Abdelghaffar ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Homozygous Mutation ◽  
Combined Immunodeficiency ◽  
Cmv Infection ◽  
Rag1 Gene ◽  
Whole Exome ◽  
Immunological Phenotype ◽  
Recombination Activating Gene ◽  
Genetic Profiles

<b><i>Background:</i></b> The recombination-activating gene 1 and 2 (RAG1/RAG2) proteins are essential to initiate the V(D)J recombination process, the result is a diverse repertoire of antigen receptor genes and the establishment of the adaptive immunity. RAG1 mutations can lead to multiple forms of combined immunodeficiency. <b><i>Methods:</i></b> In this report, whole exome sequencing was performed in a Moroccan child suffering from combined immunodeficiency, with T and B lymphopenia, autoimmune hemolytic anemia, and cytomegalovirus (CMV) infection. <b><i>Results:</i></b> After filtering data and Sanger sequencing validation, one homozygous mutation c.2446G&#x3e;A (p.Gly816Arg) was identified in the RAG1 gene. <b><i>Conclusion:</i></b> This finding expands the spectrum of immunological and genetic profiles linked to RAG1 mutation, it also illustrates the necessity to consider RAG1 immunodeficiency in the presence of autoimmune hemolytic anemia and CMV infection, even assuming the immunological phenotype appears more or less normal.

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