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Erschienen in: Journal of Clinical Immunology 1/2020

09.11.2019 | Letter to Editor

Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions

verfasst von: Chupong Ittiwut, Wiparat Manuyakorn, Siraprapa Tongkobpetch, Suwat Benjaponpitak, Megan R. Fisher, Joshua D. Milner, Jonathan J. Lyons, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Erschienen in: Journal of Clinical Immunology | Ausgabe 1/2020

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To the Editor: …
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Literatur
1.
Zurück zum Zitat Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol. 2014;133:1410–9.CrossRef Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol. 2014;133:1410–9.CrossRef
2.
Zurück zum Zitat Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014;133:1400–9.CrossRef Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014;133:1400–9.CrossRef
3.
Zurück zum Zitat Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sorqvist E, Elgstoen KB, et al. Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol. 2015;161:366–72.CrossRef Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sorqvist E, Elgstoen KB, et al. Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol. 2015;161:366–72.CrossRef
4.
Zurück zum Zitat Stray-Pedersen A, Backe PH, Sorte HS, Morkrid L, Chokshi NY, Erichsen HC, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014;95:96–107.CrossRef Stray-Pedersen A, Backe PH, Sorte HS, Morkrid L, Chokshi NY, Erichsen HC, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014;95:96–107.CrossRef
5.
Zurück zum Zitat Bernth-Jensen JM, Holm M, Christiansen M. Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3. J Allergy Clin Immunol. 2016;137:321–4.CrossRef Bernth-Jensen JM, Holm M, Christiansen M. Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3. J Allergy Clin Immunol. 2016;137:321–4.CrossRef
6.
Zurück zum Zitat Pacheco-Cuellar G, Gauthier J, Desilets V, Lachance C, Lemire-Girard M, Rypens F, et al. A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations. J Bone Miner Res. 2017;32:1853–9.CrossRef Pacheco-Cuellar G, Gauthier J, Desilets V, Lachance C, Lemire-Girard M, Rypens F, et al. A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations. J Bone Miner Res. 2017;32:1853–9.CrossRef
7.
Zurück zum Zitat Ben-Khemis L, Mekki N, Ben-Mustapha I, Rouault K, Mellouli F, Khemiri M, et al. A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients. Mol Immunol. 2017;90:57–63.CrossRef Ben-Khemis L, Mekki N, Ben-Mustapha I, Rouault K, Mellouli F, Khemiri M, et al. A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients. Mol Immunol. 2017;90:57–63.CrossRef
8.
Zurück zum Zitat Lundin KE, Wang Q, Hamasy A, Marits P, Uzunel M, Wirta V, et al. Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report. BMC Pediatr. 2018;18:285.CrossRef Lundin KE, Wang Q, Hamasy A, Marits P, Uzunel M, Wirta V, et al. Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report. BMC Pediatr. 2018;18:285.CrossRef
9.
Zurück zum Zitat Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016;48:1581–6.CrossRef Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016;48:1581–6.CrossRef
10.
Zurück zum Zitat Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, et al. Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry. J Allergy Clin Immunol. 2017;140:291–4.CrossRef Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, et al. Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry. J Allergy Clin Immunol. 2017;140:291–4.CrossRef
11.
Zurück zum Zitat Ben-Ali M, Ben-Khemis L, Mekki N, Yaakoubi R, Ouni R, Benabdessalem C, et al. Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients. J Allergy Clin Immunol. 2019;143:1638–40.CrossRef Ben-Ali M, Ben-Khemis L, Mekki N, Yaakoubi R, Ouni R, Benabdessalem C, et al. Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients. J Allergy Clin Immunol. 2019;143:1638–40.CrossRef
12.
Zurück zum Zitat Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, et al. Resolution of disease phenotypes resulting from multilocus genomic variation. N Engl J Med. 2017;376:21–31.CrossRef Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, et al. Resolution of disease phenotypes resulting from multilocus genomic variation. N Engl J Med. 2017;376:21–31.CrossRef
Metadaten
Titel
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions
verfasst von
Chupong Ittiwut
Wiparat Manuyakorn
Siraprapa Tongkobpetch
Suwat Benjaponpitak
Megan R. Fisher
Joshua D. Milner
Jonathan J. Lyons
Kanya Suphapeetiporn
Vorasuk Shotelersuk
Publikationsdatum
09.11.2019
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 1/2020
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00693-6

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