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gy2022-1-3
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Papers of the Week

Home / Publications / Pain Research Forum / Papers of the Week / Variant in the Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

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2022 Jul 27


J Clin Med


http://www.ncbi.nlm.nih.gov/pubmed/35955991?dopt=Abstract


11


15

Variant in the Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

Authors

Variant in the Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.
Welzel T, Oefelein L, Holzer U, Müller A, Menden B, Haack TB, Groβ M, Kuemmerle-Deschner JB
J Clin Med. 2022 Jul 27; 11(15).
PMID: 35955991.

Abstract

Variants in the () gene can cause -associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and -associated antibody deficiency and immune dysregulation (APLAID) syndrome. Linking the clinical phenotype with the genotype is relevant in making the final diagnosis.
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