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Joanne M Smart

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Articles 18
Citations 980
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Recent Articles
1.
Pillay B, Fusaro M, Gray P, Statham A, Burnett L, Bezrodnik L, et al.
J Clin Invest . 2020 Dec; 131(3). PMID: 33290277
Inborn errors of immunity cause monogenic immune dysregulatory conditions such as severe and recurrent pathogen infection, inflammation, allergy, and malignancy. Somatic reversion refers to the spontaneous repair of a pathogenic...
2.
Lau A, Avery D, Jackson K, Lenthall H, Volpi S, Brigden H, et al.
J Exp Med . 2019 Dec; 217(2). PMID: 31841125
Antibody-mediated autoimmune diseases are a major health burden. However, our understanding of how self-reactive B cells escape self-tolerance checkpoints to secrete pathogenic autoantibodies remains incomplete. Here, we demonstrate that patients...
3.
van Zelm M, Pumar M, Shuttleworth P, Aui P, Smart J, Grigg A, et al.
Front Immunol . 2019 May; 10:895. PMID: 31105705
Patients with X-linked agammaglobulinemia (XLA) have failure of B-cell development with lack of immunoglobulin (Ig) production. While immunoglobulin replacement therapy (IgRT) is beneficial, XLA patients remain at risk for infections,...
4.
Pillay B, Avery D, Smart J, Cole T, Choo S, Chan D, et al.
JCI Insight . 2019 Apr; 5. PMID: 31021819
Bi-allelic inactivating mutations in DOCK8 cause a combined immunodeficiency characterised by severe pathogen infections, eczema, allergies, malignancy and impaired humoral responses. These clinical features result from functional defects in most...
5.
Bier J, Rao G, Payne K, Brigden H, French E, Pelham S, et al.
J Allergy Clin Immunol . 2019 Feb; 144(1):236-253. PMID: 30738173
Background: Gain-of-function (GOF) mutations in PIK3CD cause a primary immunodeficiency characterized by recurrent respiratory tract infections, susceptibility to herpesvirus infections, and impaired antibody responses. Previous work revealed defects in CD8...
6.
Tangye S, Pillay B, Randall K, Avery D, Phan T, Gray P, et al.
J Allergy Clin Immunol . 2016 Aug; 139(3):933-949. PMID: 27554822
Background: Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is characterized by recurrent cutaneous infections, increased serum IgE...
7.
Ma C, Wong N, Rao G, Avery D, Torpy J, Hambridge T, et al.
J Allergy Clin Immunol . 2015 Jul; 136(4):993-1006.e1. PMID: 26162572
Background: Follicular helper T (TFH) cells underpin T cell-dependent humoral immunity and the success of most vaccines. TFH cells also contribute to human immune disorders, such as autoimmunity, immunodeficiency, and...
8.
Wilson R, Ives M, Rao G, Lau A, Payne K, Kobayashi M, et al.
J Exp Med . 2015 May; 212(6):855-64. PMID: 25941256
Unconventional T cells such as γδ T cells, natural killer T cells (NKT cells) and mucosal-associated invariant T cells (MAIT cells) are a major component of the immune system; however,...
9.
Deenick E, Avery D, Chan A, Berglund L, Ives M, Moens L, et al.
J Exp Med . 2013 Nov; 210(12):2739-53. PMID: 24218138
Long-lived antibody memory is mediated by the combined effects of long-lived plasma cells (PCs) and memory B cells generated in response to T cell-dependent antigens (Ags). IL-10 and IL-21 can...
10.
Berglund L, Avery D, Ma C, Moens L, Deenick E, Bustamante J, et al.
Blood . 2013 Oct; 122(24):3940-50. PMID: 24159173
B-cell responses are guided by the integration of signals through the B-cell receptor (BCR), CD40, and cytokine receptors. The common γ chain (γc)-binding cytokine interleukin (IL)-21 drives humoral immune responses...