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. Suggestion Form Please enable JavaScript in your browser to complete this form. Name First Last Email * Please enter your email, so we can ..read more

Genetic plymorphisms in IFNL3/IFNL4 and its association with increased risk and earlier occurrence of several common infections in African children The post Genetic plymorphisms in IFNL3/IFNL4 and its association with increased risk and earlier occurrence of several common infections in African children appeared first on Immunoglitch ..read more

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 The post Interim Update on Novel Inborn Errors of Immunity appeared first on Immunoglitch ..read more

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 Suggestion Form Please enable JavaScript in your browser to complete this form. Name First Last Email * Please enter your email, so we can follow up with you. Do like the article Yes No Tell us how we can improve Phone Submit The post DADA2 deficiency with fulminant EBV infection appeared first on Immunoglitch ..read more

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).  Suggestion Form Please enable JavaScript in your browser to complete this form. Name First Last Email * Please enter your email, so we can follow up with you. Do like the article Yes No Tell us how we can improve Phone Submit The post A case of SAVI with Splenic dysfunction and Specific Polysaccharide Antibody Deficiency appeared first on Immunoglitch ..read more

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 Suggestion Form Please enable JavaScript in your browser to complete this form. Name First Last Email * Please enter your email, so we can follow up with you. Do like the article Yes No Tell us how we can improve Phone Submit The post PID and role of Next-generation sequencing in India appeared first on Immunoglitch ..read more

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 from CVOID-19 with mild symptoms but delayed clearance of SARS-CoV2 Ho et al report the clinical features and outcomes of PID patients diagnosed with COVID-19 and the worse outcomes observed for humoral deficiency patients with pre-existing  autoimmu ..read more

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.  Suggestion Form Please enable JavaScript in your browser to complete this form. Name First Last Email * Please enter your email, so we can follow up with you. Do like the article Yes No Tell us how we can improve Name Submit The post The gamut of clinical manifestations in RALD appeared first on Immunoglitch ..read more

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 Meyts et al report the clinical presentation and outcomes of 94 patients with Inborn errors of immunity  Genetics/ Reviews/ Updates Platt et al compared the efficacy and economics of targeted gene panels and Whole-exome sequen ..read more

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) Suggestion Form Please enable JavaScript in your browser to complete this form. Name First Last Email * Please enter your email, so we can follow up with you. Do like the article Yes No Tell us how we can im ..read more