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.

October Update for Inborn Errors of Immunity

40 PUBMED indexed articles were published in the month of October 2020 on PID. New Inborn Error of Immunity Beck et al report a novel auto-inflammatory syndrome associated somatic mutations in UBA1 presenting in adulthood with a severe phenotype COVID-19 and PID Mantravadi et al report the recovery of X-CGD who had T cell lymphopenia …

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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)

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