Matthew C Cook
Overview
Explore the profile of Matthew C Cook including associated specialties, affiliations and a list of published articles.
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95
Citations
5157
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Recent Articles
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Medhavy A, Athanasopoulos V, Bassett K, He Y, Stanley M, Enosi Tuipulotu D, et al.
Nat Immunol
. 2024 Jul;
25(9):1678-1691.
PMID: 39060650
Whole-exome sequencing of two unrelated kindreds with systemic autoimmune disease featuring antinuclear antibodies with IgG4 elevation uncovered an identical ultrarare heterozygous TNIP1 variant segregating with disease. Mice with the orthologous...
3.
Hernandez R, Hearn J, Bhoopalan V, Hamzeh A, Kwong K, Diamand K, et al.
J Allergy Clin Immunol
. 2024 May;
154(3):767-777.
PMID: 38710235
Background: LCP1 encodes L-plastin, an actin-bundling protein primarily expressed in hematopoietic cells. In mouse and fish models, LCP1 deficiency has been shown to result in hematologic and immune defects. Objective:...
4.
Cardinez C, Hao Y, Kwong K, Davies A, Downes M, Roberts N, et al.
Nat Commun
. 2024 Mar;
15(1):2345.
PMID: 38528069
Loss-of-function mutations have provided crucial insights into the immunoregulatory actions of Foxp3+ regulatory T cells (Tregs). By contrast, we know very little about the consequences of defects that amplify aspects...
5.
Zhang Y, Morris R, Brown G, Lorenzo A, Meng X, Kershaw N, et al.
J Exp Med
. 2024 Feb;
221(4).
PMID: 38417019
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear genetic component. While most SLE patients carry rare gene variants in lupus risk genes, little is known about...
6.
Ng J, Ooi M, Bennett S, Rady K, Choi P, Lee W, et al.
Case Rep Oncol
. 2024 Feb;
17(1):329-336.
PMID: 38404406
Introduction: Acquired angioedema due to C1 esterase inhibitor deficiency (C1INH-AAE) is most associated with lymphoproliferative disorders (LPDs), particularly low-grade B-cell subtypes. The condition remains under-recognized with long diagnostic delays due...
7.
Gao X, Shen Q, Roco J, Dalton B, Frith K, Munier C, et al.
Sci Immunol
. 2024 Feb;
9(93):eadj4748.
PMID: 38330097
CD11c atypical B cells (ABCs) are an alternative memory B cell lineage associated with immunization, infection, and autoimmunity. However, the factors that drive the transcriptional program of ABCs have not...
8.
Liu X, Chan V, Smith K, Ming C, Or C, Tsui F, et al.
J Allergy Clin Immunol
. 2023 Dec;
153(4):1125-1139.
PMID: 38072195
Background: Inborn errors of immunity (IEI) often lack specific disease models and personalized management. Signal transducer and activator of transcription (STAT)-1 gain of function (GoF) is such example of an...
9.
Turnbull C, Bones J, Stanley M, Medhavy A, Wang H, Lorenzo A, et al.
Sci Adv
. 2023 Dec;
9(49):eadi9566.
PMID: 38055819
Autosomal dominant loss-of-function (LoF) variants in cytotoxic T-lymphocyte associated protein 4 () cause immune dysregulation with autoimmunity, immunodeficiency and lymphoproliferation (IDAIL). Incomplete penetrance and variable expressivity are characteristic of IDAIL...
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