Omenn Syndrome Caused By a Novel Homozygous Mutation in Recombination Activating Gene 1

Immunobiology ◽  
2021 ◽  
pp. 152090
Author(s):  
Ibtihal Benhsaien ◽  
Soukaina Essadssi ◽  
Lamiae Elkhattabi ◽  
Amina Bakhchane ◽  
Houria Abdelghaffar ◽  
...  
Keyword(s):  
Omenn Syndrome ◽  
Homozygous Mutation ◽  
Recombination Activating Gene

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

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.

scholarly journals Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation

2018 ◽  
Vol 142 (3) ◽  
pp. 928-941.e8 ◽  
Author(s):  
Valentina Capo ◽  
Maria Carmina Castiello ◽  
Elena Fontana ◽  
Sara Penna ◽  
Marita Bosticardo ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Immune Dysregulation ◽  
Omenn Syndrome ◽  
Recombination Activating Gene

Homozygous mutation in ABCA3 Lipid-Transporter defect (EXON 9) and low level of surfactant protein C

2010 ◽  
Vol 222 (S 01) ◽  
Author(s):  
J Pöschl ◽  
P Ruef ◽  
M Griese ◽  
P Lohse ◽  
C Aslanidis ◽  
...  
Keyword(s):  
Protein C ◽  
Surfactant Protein ◽  
Homozygous Mutation ◽  
Surfactant Protein C ◽  
Low Level ◽  
Exon 9 ◽  
Lipid Transporter

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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