Adult-onset Mendelian Susceptibility to Mycobacterial Diseases: A case report and systematic literature review

Autor: Yang Yang, Lu Xia, Shuihua Lu

Publikováno v: Heliyon, Vol 9, Iss 12, Pp e22632- (2023)

Objectives: To help in diagnosis and treatment of adult-onset Mendelian Susceptibility to Mycobacterial Disease (MSMD). Methods: We reported a 27-year-old man who had disease onset at 18 years. Then we reviewed previous reports of adult-onset MSMD pa

Externí odkaz: https://doaj.org/article/882b1232658a4574b076e8c6ff6a4ad2

Case Report: Reactive Lymphohistiocytic Proliferation in Infant With a Novel Nonsense Variant of IL2RG Who Received BCG Vaccine

Autor: Amal M. Yahya, Suleiman Al-Hammadi, Nidal O. AlHashaykeh, Salwa S. Alkaabi, Abdulghani S. Elomami, Asia A. AlMulla, Majed M. Alremeithi, Rewan M. Kabbary, Ranjit Vijayan, Abdul-Kader Souid

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of IL2RG (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2(IL2RG):c.820_823dup p.Ser275Asnfs*29. He developed agg

Externí odkaz: https://doaj.org/article/8efcd51f17b748ad95ae39d306a8ddc7

Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs)

Autor: Wen-I Lee, Jing-Long Huang, Kuo-Wei Yeh, Tang-Her Jaing, Tzou-Yien Lin, Yhu-Chering Huang, Cheng-Hsun Chiu

Publikováno v: Journal of the Formosan Medical Association, Vol 110, Iss 12, Pp 750-758 (2011)

Natural human immunity to the mycobacteria group, including Mycobacterium tuberculosis, Bacille Calmette-Guérin (BCG) or nontuberculous mycobacteria (NTM), and/or Salmonella species, relies on the functional IL-12/23-IFN-γ integrity of macrophages

Externí odkaz: https://doaj.org/article/6946d371868149dfb632eee9c34356fb

IFN-γ Receptor 2 Deficiency Initial Mimicry of Multisystem Inflammatory Syndrome in Children (MIS-C)

Autor: James C. Reed, Mariawy Riollano Cruz, Haoli Jin, Ersa Akkoyun, Emily Hertzberg, Rachel Moss, Michael F. Tosi, Dusan Bogunovic, Charlotte Cunningham-Rundles

Publikováno v: The Journal of Allergy and Clinical Immunology. in Practice
The Journal of Allergy and Clinical Immunology: In Practice

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4bbf0c4f1d7a8978377a7220d7b645
http://europepmc.org/articles/PMC7477603

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rß1-Deficient Peruvian Girl

Autor: Esteve-Sole A, Sánchez-Dávila SP, Deyà-Martinez A, Freeman AF, Zelazny AM, Dekker JP, Khil PP, Holland SM, Noguera-Julián A, Bustamante J, Casanova JL, Juan M, Cordova W, Alsina L

Publikováno v: JOURNAL OF CLINICAL IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

PURPOSE: Mendelian suceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency predisposing to severe disease caused by mycobacteria and other intracellular pathogens. Delay in diagnosis can have an impact on the patient's progno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a17c4827a26250d3bfc4a6fce93375ba
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14694