Decreased ATM causing defective DNA repair and apoptosis in CVID

Reference: Hargreaves, C.E., Salatino, S., Sasson, S.C. et al. Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders. J Clin Immunol (2021). https://doi.org/10.1007/s10875-021-01050-2   Bottom line: Decreased pATM promotes DNA repair defects and promotes apoptosis. Complex CVID and Infections CVID have a differential expression of genes TOP3A, XRCC2, and MSH6.

September Update for Inborn Errors of Immunity

38 PUBMED indexed articles were published in the month of September 2020. COVID-19 and PID Zang et al report defects in TLR3- and IRF7-dependent type I IFN immunity that may predispose patients to life-threatening COVID-19 pneumonia Bastard et al report auto-antibodies against  IFN-ω and IFN-α that neutralize the action of type I IFNs against Sars-Cov2 …

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IPEX and IPEX-like Syndromes

Reference: Jamee M, Zaki-Dizaji M, Lo B, Abolhassani H, Aghamahdi F, Mosavian M, Nademi Z, Mohammadi H, Jadidi-Niaragh F, Rojas M, Anaya JM, Azizi G, Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome, The Journal of Allergy and Clinical Immunology: In Practice (2020)