A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients

Molecular Immunology

Volumn 90, Issue , 2017, Pages 57-63

  Ben Khemis, Leila ^a,b   Mekki, Najla ^a,c   Ben Mustapha, Imen ^a,c   Rouault, Karen ^d   Mellouli, Fethi ^e   Khemiri, Monia ^f   Bejaoui, Mohamed ^e   Essaddam, Leila ^f   Ben Becher, Saayda ^f   Boughamoura, Lamia ^g   Hassayoun, Saida ^g   Ben Ali, Meriem ^a,c   Barbouche, Mohamed Ridha ^a,c  

^a Insitut Pasteur de Tunis   (Tunisia)

^b UNIVERSITY OF CARTHAGE   (Tunisia)

^c UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^d INSERM   (France)

^e CENTRE NATIONAL DE GREFFE DE MOELLE OSSEUSE   (Tunisia)

^f CHILDREN S HOSPITAL   (Tunisia)

^g FARHAT HACHED HOSPITAL   (Tunisia)

Author keywords

Congenital disorder of glycosylation; Consanguinity; Glu340del founder mutation; PGM3 deficiency

Indexed keywords

GAMMA INTERFERON; GENOMIC DNA; IMMUNOGLOBULIN E; PHOSPHOGLUCOMUTASE; PHOSPHOGLUTAMASE 3; TRANSCRIPTION FACTOR FOXP3; UNCLASSIFIED DRUG; PGM3 PROTEIN, HUMAN;

ADOLESCENT; AGE DETERMINATION; ARTICLE; CD4+ T LYMPHOCYTE; CHILD; CHROMOSOME 6; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; CONVULSION; CYTOKINE PRODUCTION; DEVELOPMENTAL DELAY; ECZEMA; EOSINOPHILIA; FAILURE TO THRIVE; FEMALE; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LYMPHOCYTE DIFFERENTIATION; MALE; MENTAL DEFICIENCY; PHENOTYPE; PHOSPHOGLUTAMASE 3 DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PYODERMA; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SCOLIOSIS; SKIN ABSCESS; SKIN INFECTION; T LYMPHOCYTE; TH17 CELL; TUNISIA; TUNISIAN; CONSANGUINITY; DEFICIENCY; GENETIC PREDISPOSITION; GENETICS; GLYCOSYLATION; HOMOZYGOTE; PEDIGREE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PHOSPHOGLUCOMUTASE; TUNISIA;

EID: 85021904849     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2017.06.248     Document Type: Article

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