DiGeorge Syndrome, Severity of lymphopenia and Immune 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

Stem cell transplantation for CARD 11 loss of function

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

Haploidentical Transplantation in XIAP

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

Hypercorticolism due to Thymic tumour and secondary antibody deficiency

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 …

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CD27 and CD70 deficiency, its clinical and immunophenotype and transplant outcomes

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 …

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