Abstract
A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 encodes a carbohydrate-modifying enzyme, phosphoglucomutase 3. Null-mutations are quite likely lethal, and to date only missense mutations or small deletions have been reported. Such mutations frequently cause a combination of reduced enzyme activity and protein instability, complicating determination of the enzyme level needed for survival. Here we present the first patient with a homozygous splice-modifying mutation in the PGM3 gene. An A > G substitution at position c.871 + 3 (transcript NM_001199917) is causing a deletion of exon 7 in the majority of PGM3 transcripts. In addition, this case further increases the clinical phenotypes of immunodeficiency caused by PGM3 mutations. We describe the symptoms of a 3-year-old girl who was severely growth retarded, had vascular malformations, extensive eczema, multiple food-allergies, and was prone to infections. Unlike the majority of reported PGM3 deficient patients she lacked skeletal dysplasia and had normal neurocognitive development. In addition to the high serum-IgE, s...Continue Reading
References
Sep 11, 1987·Nucleic Acids Research·M B Shapiro, P Senapathy
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Nov 14, 2006·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Jennifer C LingSteven M Holland
Jun 6, 2007·Molecular and Cellular Biology·Kylie T GreigBenjamin T Kile
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
May 26, 2011·Nucleic Acids Research·Jana KralovicovaIgor Vorechovsky
Nov 16, 2013·Nucleic Acids Research·Melissa J LandrumDonna R Maglott
Mar 5, 2014·The Journal of Allergy and Clinical Immunology·Yu ZhangJoshua D Milner
Apr 5, 2014·The Journal of Allergy and Clinical Immunology·Atfa SassiBodo Grimbacher
May 17, 2014·Journal of Inherited Metabolic Disease·Kyle ScottEva Morava
Jun 17, 2014·American Journal of Human Genetics·Asbjørg Stray-PedersenI Celine Hanson
Dec 17, 2014·BMC Genomics·Henrik StranneheimAnna Wedell
Dec 17, 2014·PloS One·Lotte N MoensMats Nilsson
Sep 28, 2015·The Journal of Allergy and Clinical Immunology·Jens Magnus Bernth-JensenMette Christiansen
Oct 21, 2015·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Karin E LundinC I Edvard Smith
Jan 2, 2016·Biochimica Et Biophysica Acta·Anke P WillemsDirk J Lefeber
Apr 23, 2016·Cell·Yansheng LiuRuedi Aebersold
Sep 1, 2016·The Journal of Allergy and Clinical Immunology·Asbjørg Stray-PedersenJames R Lupski
Oct 11, 2016·The Journal of Allergy and Clinical Immunology·Isabelle MeytsJean-Laurent Casanova
May 26, 2017·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Guillermo Pacheco-CuéllarPhilippe M Campeau
Jul 14, 2017·Molecular Immunology·Leila Ben-KhemisMohamed-Ridha Barbouche
Citations
May 17, 2019·Journal of Inherited Metabolic Disease·Carlota PascoalPaula A Videira
Jun 25, 2019·European Journal of Human Genetics : EJHG·Jaak JaekenGert Matthijs
Apr 3, 2020·Immunological Reviews·Peter J McGuire
Nov 11, 2019·Journal of Clinical Immunology·Chupong IttiwutVorasuk Shotelersuk
Oct 25, 2020·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Ana García-GarcíaLaia Alsina
Nov 17, 2020·Frontiers in Genetics·Xiao-Rong LiuWei-Ping Liao
Feb 4, 2021·Journal of Clinical Immunology·Mathieu FusaroCapucine Picard