From dysfunction to dysregulation
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 …
Reference: Kong, X., Worley, L., Rinchai, D. et al. Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome. J Clin Immunol (2020) Journal: Journal of Clinical Immunology Summary: 45 Down syndrome (DS) patients were evaluated by flow-cytometry, transcriptomics, ELISA and EMSA to study the clinical and cellular phenotype with emphasis on …
Down Syndrome, Interferonopathy and Interferon receptor genes Read More »
Reference: Lhomme, F., Peyrard, T., Babinet, J. et al. Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series. J Clin Immunol (2020) Journal: Journal of Clinical Immunology Summary: Eight X linked CGD patients with McLeod’s phenotype which was diagnosed based of large deletion of Xp21.1 locus, alloimmunization and weak Kell expression were retrospectively analysed …
Chronic Granulomatous Disease with McLeod’s phenotype Read More »
Reference: Vanessa Gadoury-Levesque, Lei Dong, Rui Su, Jianjun Chen, Kejian Zhang, Kimberly A. Risma, Rebecca A. Marsh, Miao Sun; Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood Adv 2020; 4 (12): 2578–2594. Journal: Blood Advances Summary: 1892 samples were retrospectively analysed, 197 samples had pathogenic or likely pathogenic variants in …
Mutation spectrum of genetic variants in Hemophagocytic lymphohistiocytosis Read More »
Reference: Kudo, Takahiro, et al. “Very early‐onset inflammatory bowel disease in Japan: A nationwide survey.” Journal of Gastroenterology and Hepatology (2020). Journal: Journal of Gastroenterology and Hepatology Summary: 630 facilities with pediatric and pediatric surgery accredited programs accross Japan were sent a questionnaire to investigate number of patients with VEO-IBD A total of 225 patients with VEO_IBD …
Very early-onset Inflammatory Bowel Disease a survey from Japan Read More »
Reference: Sharapova, Svetlana O., et al. “The clinical and genetic spectrum of 82 patients with RAG deficiency including a c. 256_257delAA founder variant in Slavic countries.” Frontiers in Immunology 11 (2020): 900. Journal: Frontiers in Immunology Summary: 82 patients with RAG deficiency (67 RAG1 & 15 RAG2) from Salvic countries were retrospectively evaluated to study clinical, immunological, …
Reference: MLA Barkai, Tal, et al. “Late diagnosis of Chronic Granulomatous Disease.” Clinical & Experimental Immunology. Journal: Clinical & Experimental Immunology. Summary: 1. 16 CGD patients from Israel whose diagnosis was made during adulthood were studied retrospectively 2. 5/16 patients were X-CGD, of the AR-CGD, 4 patients were …
Diagnostic delay And its implications in Chronic Granulomatous Disease Read More »
Reference: Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease Journal: International Archives of Allergy and Immunology Summary: 1. 32 CGD patients from a single center in Turkey were evaluated retrospectively to study clinical, immunological and genetic characteristics 2. 18/32 were X linked …
Clinical and genetic characteristics in Chronic Granulomatous Disease Read More »
Reference: He, T., Huang, Y., Luo, Y. et al. Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3. J Clin Immunol (2020). Journal: Journal of Clinical Immunology Summary: 1. 6 Chinese patients with heterozygous mutations in TNFAIP3 who presented with early-onset autoimmune/auto-inflammatory features were further evaluated in this study 2. …
A case series of Haploinsufficiency of A20 with novel mutations in TNFAIP3 Read More »
Reference: Okano, T., Imai, K., Naruto, T. et al. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity. J Clin Immunol (2020). Journal: Journal of Clinical Immunology Summary: 1. WES was done for 136 PID from PID database in Japan with negative targeted genetic screening due to atypical clinical features or intractable symptoms …
Whole Exome Sequencing Approach to diagnose Primary Immunodeficiency Disorders Read More »