Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

BMC Pediatrics

Volumn 18, Issue 1, 2018, Pages

  Lundin, Karin E ^a   Wang, Qing ^a   Hamasy, Abdulrahman ^a,b   Marits, Per ^c   Uzunel, Mehmet ^c   Wirta, Valtteri ^d,e   Wikström, Ann Charlotte ^c   Fasth, Anders ^f   Ekwall, Olov ^f,g   Smith, C I Edvard ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b HAWLER MEDICAL UNIVERSITY   (Iraq)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d SCIENCE FOR LIFE LABORATORY   (Sweden)

^e ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

^f SAHLGRENSKA ACADEMY AT UNIVERSITY OF GOTHENBURG   (Sweden)

^g UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Congenital disorder of glycosylation; Hyper IgE; N acetylglucosamine phosphate mutase; PGM3 enzyme activity; Phosphoglucomutase 3; Primary immunodeficiency; Splice modifying mutation

Indexed keywords

ANTIBIOTIC AGENT; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; MESSENGER RNA; PHOSPHOGLUCOMUTASE; PHOSPHOGLUCOMUTASE 3; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG; PGM3 PROTEIN, HUMAN;

ABSCESS; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; AMINO ACID SUBSTITUTION; ARTICLE; CANDIDIASIS; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CHILD; CHILD DEATH; CHRONIC DIARRHEA; CLINICAL ARTICLE; CONGENITAL BLOOD VESSEL MALFORMATION; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CYTOMEGALOVIRUS; ECZEMA; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; EXON; FAILURE TO THRIVE; FEMALE; FOOD ALLERGY; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; LYMPHOCYTE COUNT; LYMPHOCYTE FUNCTION; MALE; MEMORY T LYMPHOCYTE; MULTIPLE ORGAN FAILURE; PAKISTANI; PGM3 GENE; PHENOTYPE; PHOSPHOGLUTAMASE 3 DEFICIENCY; PRESCHOOL CHILD; RECURRENT INFECTION; RNA SPLICE SITE; STAPHYLOCOCCUS INFECTION; WILD TYPE; FATALITY; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION;

CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; PHOSPHOGLUCOMUTASE; RNA SPLICE SITES; RNA, MESSENGER;

EID: 85052577427     PISSN: None     EISSN: 14712431     Source Type: Journal    
DOI: 10.1186/s12887-018-1258-9     Document Type: Article

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