Angulo I, et al. Science. 2013;342(6160):866–871. With Lucas, one of the two studies first discovering APDS (specifically APDS1).
Deau MC, et al. J Clin Invest. 2014;124(9):3923–3928. With Lucas, one of the two studies first describing APDS2.
Lucas CL, et al. Nat Immunol. 2014;15(1):88–97. With Angulo, one of the two studies first discovering APDS (specifically APDS1).
Lucas CL, et al. J Exp Med. 2014;211(13):2537–2547. With Deau, one of the two studies first describing APDS2.
Chinen J, et al. Ann Allergy Asthma Immunol. 2019;123(5):433–439. A practical approach to the available methodologies for identifying pathological genetic variants in patients with suspected primary immunodeficiency.
Chinn IK, et al. J Allergy Clin Immunol. 2020;145(1):46–69. A report from AAAAI on how to interpret genetic tests to diagnose patients with primary immunodeficiencies.
Heimall JR, et al. J Clin Immunol. 2018;38(3):320–329. Recommendations from CIS for the use of genetic testing for patients with primary immunodeficiencies, as well as a review of the types, strengths, and limitations of different genetic testing methods.
Quinn J, et al. Immunol Res. 2020;68(3):126–134. Outcomes of the Jeffrey Modell Foundation free global genetic sequencing pilot partnership with Invitae to identify specific primary immunodeficiency defects in order to optimize disease management and treatment.
Bogaert DJ, et al. J Med Genet. 2016;53(9):575–590. A discussion of CVID as an umbrella diagnosis that may hide distinct monogenetic disease entities, such as APDS.
Bousfiha A, et al. J Clin Immunol. 2020;40(1):66–81. 2019 update to the IUIS primary immunodeficiency (inborn errors of immunity) phenotypic classification of 430 single-gene diseases.
Hartog NL, et al. Front Immunol. 2019;10:1783. A review of patient-centric care for primary immunodeficiencies from US and global perspectives.
Modell V, et al. Immunol Res. 2017;65(3):713–720. An analysis of strategies for identifying patients with primary immunodeficiencies, including Jeffrey Modell Foundation’s 10 Warning Signs, the 4 Stages of Testing Algorithm, physician-reported clinical outcomes, programs of physician education and public awareness, the SPIRIT® Analyzer, and newborn screening. It also highlights how diagnosis can improve patient outcomes and reduce costs.
Tangye SG, et al. J Clin Immunol. 2020;40(1):24–64. 2019 update to the IUIS primary immunodeficiency (inborn errors of immunity) phenotypic classification of 430 single-gene diseases.
Crank MC, et al. J Clin Immunol. 2014;34(3):272–276. A case series (n=3) describing increased risk of malignancy in patients with APDS.
Kracker S, et al. J Allergy Clin Immunol. 2014;134(1):233–236. A case series (n=2) describing increased susceptibility of patients with APDS to B cell lymphomas.
Mayor PC, et al. J Allergy Clin Immunol. 2018;141(3):1028–1035. An analysis showing an increased incidence of cancer, particularly lymphoma, in patients with primary immunodeficiencies.
Shapiro RS. Am J Hematol. 2011;86(1):48–55. A review for hematologists/oncologists describing the implications of malignancies in the setting of primary immunodeficiencies.
Agarwal S, Cunningham-Rundles C. Immunol Allergy Clin North Am. 2019;39(1):81–94. A review of the gastrointestinal manifestations of primary immunodeficiencies, highlighting that these may be the first manifestation and that poor response to treatment should prompt immune evaluation.
Lindoso L, et al. Am J Gastroenterol. 2019;114:S14. A case series (n=3) demonstrating that patients with APDS may present first to gastroenterologists with inflammatory bowel disease.
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