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Items: 14


Germline CBM-opathies: From immunodeficiency to atopy.

Lu HY, Biggs CM, Blanchard-Rohner G, Fung SY, Sharma M, Turvey SE.

J Allergy Clin Immunol. 2019 May;143(5):1661-1673. doi: 10.1016/j.jaci.2019.03.009. Review.


Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome.

Halyabar O, Chang MH, Schoettler ML, Schwartz MA, Baris EH, Benson LA, Biggs CM, Gorman M, Lehmann L, Lo MS, Nigrovic PA, Platt CD, Priebe GP, Rowe J, Sundel RP, Surana NK, Weinacht KG, Mann A, Yuen JC, Meleedy-Rey P, Starmer A, Banerjee T, Dedeoglu F, Degar BA, Hazen MM, Henderson LA.

Pediatr Rheumatol Online J. 2019 Feb 14;17(1):7. doi: 10.1186/s12969-019-0309-6.


Extended analysis of parent and child confidence in recognizing anaphylaxis and using the epinephrine autoinjector during oral food challenges.

Soller L, Teoh T, Baerg I, Wong T, Hildebrand KJ, Cook VE, Biggs CM, Lee N, Yaworski L, Cameron SB, Chan ES.

J Allergy Clin Immunol Pract. 2019 Feb;7(2):693-695. doi: 10.1016/j.jaip.2018.09.025. Epub 2018 Oct 5. No abstract available.


De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J.

Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep.


The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.

Lu HY, Sharma M, Biggs CM, Huang YH, Shopsowitz KE, Frosk P, Priatel JJ, Rubin TS, Turvey SE.

Pediatr Allergy Immunol. 2018 Sep;29(6):663-668. doi: 10.1111/pai.12930. Epub 2018 Jun 25. No abstract available.


Newborn screening for severe combined immunodeficiency: a primer for clinicians.

Biggs CM, Haddad E, Issekutz TB, Roifman CM, Turvey SE.

CMAJ. 2017 Dec 18;189(50):E1551-E1557. doi: 10.1503/cmaj.170561. Review. No abstract available.


Monogenic immune disorders and severe atopic disease.

Biggs CM, Lu HY, Turvey SE.

Nat Genet. 2017 Jul 27;49(8):1162-1163. doi: 10.1038/ng.3925.


Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

Biggs CM, Kostjukovits S, Dobbs K, Laakso S, Klemetti P, Valta H, Taskinen M, Mäkitie O, Notarangelo LD.

J Clin Immunol. 2017 Aug;37(6):508-510. doi: 10.1007/s10875-017-0408-4. Epub 2017 Jun 19. No abstract available.


DOCK8 deficiency: Insights into pathophysiology, clinical features and management.

Biggs CM, Keles S, Chatila TA.

Clin Immunol. 2017 Aug;181:75-82. doi: 10.1016/j.clim.2017.06.003. Epub 2017 Jun 15. Review.


First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

Delmonte OM, Biggs CM, Hayward A, Comeau AM, Kuehn HS, Rosenzweig SD, Notarangelo LD.

J Clin Immunol. 2017 May;37(4):336-338. doi: 10.1007/s10875-017-0391-9. Epub 2017 Apr 4. No abstract available.


Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3+IL-17+ cells.

Marwaha AK, Panagiotopoulos C, Biggs CM, Staiger S, Del Bel KL, Hirschfeld AF, Priatel JJ, Turvey SE, Tan R.

Genes Immun. 2017 Jan;18(1):15-21. doi: 10.1038/gene.2016.44. Epub 2017 Jan 5.


Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency.

Al-Herz W, Chu JI, van der Spek J, Raghupathy R, Massaad MJ, Keles S, Biggs CM, Cockerton L, Chou J, Dbaibo G, Elisofon SA, Hanna-Wakim R, Kim HB, Lehmann LE, McDonald DR, Notarangelo LD, Veys P, Chatila TA, Geha RS, Gaspar HB, Pai SY.

J Allergy Clin Immunol. 2016 Sep;138(3):852-859.e3. doi: 10.1016/j.jaci.2016.02.022. Epub 2016 Apr 6.


Innate immune control of EBV-infected B cells by invariant natural killer T cells.

Chung BK, Tsai K, Allan LL, Zheng DJ, Nie JC, Biggs CM, Hasan MR, Kozak FK, van den Elzen P, Priatel JJ, Tan R.

Blood. 2013 Oct 10;122(15):2600-8. doi: 10.1182/blood-2013-01-480665. Epub 2013 Aug 23.


Inactivation of mammalian target of rapamycin increases STAT1 nuclear content and transcriptional activity in alpha4- and protein phosphatase 2A-dependent fashion.

Fielhaber JA, Han YS, Tan J, Xing S, Biggs CM, Joung KB, Kristof AS.

J Biol Chem. 2009 Sep 4;284(36):24341-53. doi: 10.1074/jbc.M109.033530. Epub 2009 Jun 24.

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