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.
Reference: Tangye, S.G., Al-Herz, W., Bousfiha, A. et al. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee. J Clin Immunol (2021). https://doi.org/10.1007/s10875-021-00980-1
Reference: Brooks, J.P., Rice, A.J., Ji, W. et al. Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2). J Clin Immunol (2021). https://doi.org/10.1007/s10875-020-00940-1
Reference: Bijker, E.M., Rösler, B., Hoppenreijs, E. et al. Functional Asplenia and Specific Polysaccharide Antibody Deficiency in a Girl with SAVI. J Clin Immunol (2020).
Reference: Arunachalam, A.K., Maddali, M., Aboobacker, F.N. et al. Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing. J Clin Immunol (2020). https://doi.org/10.1007/s10875-020-00923-2
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 …
Reference: Neven Q, Boulanger C, Bruwier A, de Ville de Goyet M, Meyts I, Moens L, Van Damme A, Brichard B. Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD). J Clin Immunol. 2020 Oct 4.
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 …
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)