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7. When less is more: primary immunodeficiency with an autoinflammatory kick. Giannelou A; Zhou Q; Kastner DL Curr Opin Allergy Clin Immunol; 2014 Dec; 14(6):491-500. PubMed ID: 25337682 [TBL] [Abstract][Full Text] [Related]
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18. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. Zhang Y; Yu X; Ichikawa M; Lyons JJ; Datta S; Lamborn IT; Jing H; Kim ES; Biancalana M; Wolfe LA; DiMaggio T; Matthews HF; Kranick SM; Stone KD; Holland SM; Reich DS; Hughes JD; Mehmet H; McElwee J; Freeman AF; Freeze HH; Su HC; Milner JD J Allergy Clin Immunol; 2014 May; 133(5):1400-9, 1409.e1-5. PubMed ID: 24589341 [TBL] [Abstract][Full Text] [Related]
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20. A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases. Novice T; Kariminia A; Del Bel KL; Lu H; Sharma M; Lim CJ; Read J; Lugt MV; Hannibal MC; O'Dwyer D; Hosler M; Scharnitz T; Rizzo JM; Zacur J; Priatel J; Abdossamadi S; Bohm A; Junker A; Turvey SE; Schultz KR; Rozmus J J Clin Immunol; 2020 Feb; 40(2):267-276. PubMed ID: 31853824 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]