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Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Zamani R, Shahkarami S, Rezaei N. Zamani R, et al. Allergol Immunopathol (Madr). 2021 Mar 1;49(2):178-190. doi: 10.15586/aei.v49i2.61. eCollection 2021. Allergol Immunopathol (Madr). 2021. PMID: 33641308 Review.
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 …
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndro …
Clinical utility gene card for: Vici Syndrome.
Cullup T, Dionisi-Vici C, Kho AL, Yau S, Mohammed S, Gautel M, Jungbluth H. Cullup T, et al. Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.142. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838600 Free PMC article. No abstract available.
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Semeraro M, Sacchetti E, Deodato F, Coşkun T, Lay I, Catesini G, Olivieri G, Rizzo C, Boenzi S, Dionisi-Vici C. Semeraro M, et al. Orphanet J Rare Dis. 2021 Jan 9;16(1):24. doi: 10.1186/s13023-020-01662-8. Orphanet J Rare Dis. 2021. PMID: 33422100 Free PMC article.
Besides Pompe disease, the tetrasaccharide Glc4 was increased also in disorders of autophagy (Vici syndrome, Yunis-Varon syndrome, and Danon disease) presenting cardiomuscular involvement with glycogen storage. ...
Besides Pompe disease, the tetrasaccharide Glc4 was increased also in disorders of autophagy (Vici syndrome, Yunis-Varon sy …