Toshiro Kendrick Ohsumi, Ph.D.
This page shows the publications co-authored by Toshiro Ohsumi and Janet Chou.
Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017 Jul 03; 214(7):1937-1947.
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol. 2016 Mar; 137(3):879-88.e2.
A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. J Allergy Clin Immunol. 2015 Aug; 136(2):479-482.e1.
Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. J Allergy Clin Immunol. 2014 Oct; 134(4):983-5.e1.
Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2012 Dec; 12(6):623-8.
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest. 2016 11 01; 126(11):4219-4236.
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8.
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18; 372(25):2409-22.
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015 Jan; 135(1):217-27.
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013 Jul; 132(1):151-8.
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