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| http://dx.doi.org/10.1016/j.jaci.2013.11.038 | DOI Listing |
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Case report: Identification of a Chinese patient with mutations initially presenting as autoimmune hemolytic anemia.
Front Immunol
December 2024
Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Mutations in the recombination-activating gene 1, a pivotal component essential for V(D)J recombination and the formation of T- and B-cell receptors, can result in autoimmune hemolytic anemia, a rare hematological condition characterized by the autoantibody-mediated destruction of red blood cells. Herein, we report the case of a 1-year-and-4-month-old girl who presented with progressively aggravated anemia, fever, and cough. Autoimmune hemolytic anemia was confirmed by bone marrow aspiration and Coombs test.
View Article and Find Full Text PDFDiffuse alveolar hemorrhage as the initial presentation of hypomorphic RAG1 deficiency.
Pediatr Allergy Immunol
October 2024
Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and Autoimmunity.
Clin Exp Immunol
October 2024
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Article Synopsis
- Inborn errors of immunity (IEI) are diseases that affect how the immune system works, causing problems like getting sick easily or having allergies.
- A 19-year-old girl with severe combined immunodeficiency (SCID) and a family history of similar issues had two genetic mutations that made her immune system not work right.
- After getting a special treatment called HSCT, she developed serious autoimmune problems like lupus, and tests showed complicated genetic issues can exist in people from close families.
Type XVII Collagen-Specific CD4 T Cells Induce Bullous Pemphigoid by Producing IL-5.
J Invest Dermatol
September 2024
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address:
Article Synopsis
- Bullous pemphigoid is an autoimmune skin disease caused by antibodies against type XVII collagen, leading to blister formation and inflammation in the skin.
- Researchers created specific CD4 T cell lines that recognize the collagen and tested their effects by transferring them into specially designed mice that only express human COL17.
- The study found that certain T cell lines caused symptoms similar to bullous pemphigoid, and high levels of IL-5 cytokine were linked to this effect; blocking IL-5 reduced the skin damage and antibody production.
Gut microbiota from B-cell-specific TLR9-deficient NOD mice promote IL-10 Breg cells and protect against T1D.
Front Immunol
June 2024
Section of Endocrinology, Internal Medicine, School of Medicine, Yale University, New Haven, CT, United States.
Introduction: Type 1 diabetes (T1D) is an autoimmune disease characterized by the destruction of insulin-producing β cells. Toll-like receptor 9 (TLR9) plays a role in autoimmune diseases, and B cell-specific TLR9 deficiency delays T1D development. Gut microbiota are implicated in T1D, although the relationship is complex.
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