From dysfunction to dysregulation
Reference: Deshpande, D.R., Demirdag, Y.Y., Marsh, R.A. et al. Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study. J Clin Immunol (2020). https://doi.org/10.1007/s10875-020-00854-y
Reference: Olaya, M., Franco, A., Chaparro, M. et al. Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia. J Clin Immunol (2020). https://doi.org/10.1007/s10875-020-00856-w
Reference: Mace EM, Paust S, Conte MI, et al. Human NK cell deficiency as a result of biallelic mutations in MCM10 [published online ahead of print, 2020 Aug 31]. J Clin Invest. 2020;134966. doi:10.1172/JCI134966
Reference: Preserved Cellular Immunity Upon Influenza Vaccination in Most Patients with Common Variable Immunodeficiency David Friedmann, MSc Sigune Goldacker, MD Hans-Hartmut Peter, MD Klaus Warnatz, MD Published:April 21, 2020
Reference: María Nieves-Moreno , María Granados & Susana Noval (2020): Primary Immunodeficiency Diseases Presenting with Chalazia as the First Manifestation, Ocular Immunology and Inflammation
Reference: Al-Rasheed, B., Alazami, A.M. & Al-Mousa, H. Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation. J Clin Immunol (2020). https://doi.org/10.1007/s10875-020-00846-y Journal: Journal of Clinical Immunology Take Home Message: Authors report a case of CARD 11 loss of function mutation who underwent unconditioned HSCT
Reference: Yang, J., Zhu, G., Wang, B. et al. Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report. J Clin Immunol 40, 893–900 (2020). https://doi.org/10.1007/s10875-020-00795-6 Bottom line: More studies are needed to determine the suitability of modified MAC for haploidentical transplantation in XIAP
Reference: Ziv, A., Werner, L., Konnikova, L. et al. An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. J Clin Immunol (2020). https://doi.org/10.1007/s10875-020-00829-z
Reference: Sarcevic, J., Berger, C. T., Cavelti-Weder, C., & Trendelenburg, M. (2020). Case report-Secondary Antibody Deficiency due to Endogenous Hypercortisolism. Frontiers in Immunology, 11, 1435. Take Home Message: Authors report a young adult with ACTH producing thymic tumour with elevated cortisol levels with extensive immunological work up that replicated the effect of corticosteroid therapy leading to a …
Hypercorticolism due to Thymic tumour and secondary antibody deficiency Read More »
Reference: Ghosh, Sujal, et al. “Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.” Blood (2020). Journal: Blood Summary: 33 CD27 deficiency and 16 CD 70 deficiency patients from ESID and EBMT registries were retrospectively evaluated and long term follow-up was done Mean age of patients was 18.8 years and 16.7 years for …
CD27 and CD70 deficiency, its clinical and immunophenotype and transplant outcomes Read More »