Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene

Clinical Immunology

Volumn 161, Issue 2, 2015, Pages 366-372

  Lundin, Karin E ^a   Hamasy, Abdulrahman ^a   Backe, Paul Hoff ^b,c   Moens, Lotte N ^d   Falk Sörqvist, Elin ^d   Elgstøen, Katja B ^c   Mørkrid, Lars ^c   Bjørås, Magnar ^b,e   Granert, Carl ^f   Norlin, Anna Carin ^f   Nilsson, Mats ^d,g   Christensson, Birger ^a   Stenmark, Stephan ^h   Smith, C I Edvard ^a,f  

^a KAROLINSKA INSTITUTE   (Sweden)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF OSLO   (Norway)

^d UPPSALA UNIVERSITY   (Sweden)

^e NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^f KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^g STOCKHOLM UNIVERSITY   (Sweden)

^h UMEÅ UNIVERSITY   (Sweden)

Author keywords

CDG; Congenital defects of glycosylation; Hyper IgE syndrome; N acetylglucosamine phosphate mutase; Primary immunodeficiency

Indexed keywords

AMOXICILLIN; ANTIBIOTIC AGENT; CORTICOSTEROID; IMMUNOGLOBULIN; IMMUNOGLOBULIN E; PHOSPHOGLUCOMUTASE; PHOSPHOGLUCOMUTASE 3; PREDNISOLONE; UNCLASSIFIED DRUG; PGM3 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BRONCHITIS; CANDIDA ALBICANS; CASE REPORT; CHICKENPOX; CHILD; CONTROLLED STUDY; DNA SEQUENCE; ECZEMA; ENZYME ACTIVITY; EOSINOPHILIA; FEMALE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPER IGE SYNDROME; IMMUNE DEFICIENCY; INFECTION SENSITIVITY; MALE; MISSENSE MUTATION; NEUTROPENIA; OTITIS MEDIA; PERICARDITIS; PNEUMONIA; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; SCHOOL CHILD; SIBLING; SKIN ABSCESS; STAPHYLOCOCCUS AUREUS; ADULT; CELL CULTURE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATALITY; GENETIC PREDISPOSITION; GENETICS; INFECTION; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; WESTERN BLOTTING;

ADULT; BASE SEQUENCE; BLOTTING, WESTERN; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFECTION; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHOSPHOGLUCOMUTASE; SIBLINGS;

EID: 84945280026     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2015.10.002     Document Type: Article

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