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).

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). Journal: Journal of Clinical Immunology Take Home Message: Authors report a case of CARD 11 loss of function mutation who underwent unconditioned HSCT

T cells in Nijmegen Breakage Syndrome

Reference: Piatosa B, Wolska-Kus ́ nierz B, Tkaczyk K, Heropolitanska-Pliszka E, Grycuk U, Wakulinska A and Gregorek H (2020) T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway. Front. Immunol. 11:1319. Journal: Frontiers in Immunology Summary: 46 patients with Slavic 657del5 mutation in nibrin gene and …

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Whole-genome sequencing in a large cohort of PID patients

Reference: Thaventhiran, J.E.D., Lango Allen, H., Burren, O.S. et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature (2020). Journal: Nature Summary: 1. Whole genome was sequenced for 1318 familial and sporadic PID patients with most of them being adult onset CVID and CID 2. Bayesian inference (BeviMed) was used to study if cohort based …

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