Clinical and genetic characteristics in Chronic Granulomatous Disease

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 …

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A case series of Haploinsufficiency of A20 with novel mutations in TNFAIP3

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. …

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Whole Exome Sequencing Approach to diagnose Primary Immunodeficiency Disorders

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 …

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Clinical and immunophenotypic features of LRBA deficient patients from Egypt

Reference: Meshaal, S., El Hawary, R., Adel, R. et al. Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients. J Clin Immunol (2020). Journal: Journal of Clinical Immunology Summary: 1. 18 LRBA deficient patients were evaluated for Serum Ig levels, lymphocyte subsets, CTLA4 and LRBA by flow and mutation by NGS         …

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Agammaglobulinemia and respiratory complications

Reference :Fekrvand, S, Yazdani, R, Olbrich, P, et al. Evaluation of respiratory complications in patients with X‐linked and autosomal recessive agammaglobulinemia. Pediatr Allergy Immunol. 2020; 31: 405– 417. Journal: Pediatric Allergy and Immunology Summary: 1. 115 patients from 1983-2018 with B cells <2%, low IgG levels and recurrent infections were included and Pulmonary function tests (PFT) …

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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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Incidence of SCID cases in Germany

Reference: Shai, S., Perez-Becker, R., Andres, O. et al. Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie. J Clin Immunol (2020). Journal: Journal of Clinical Immunology Summary: 1.German Surveillance Unit for rare …

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Easy Blood based Prognostic markers in Secondary HLH

Reference: Huang, J., Yin, G., Duan, L. et al. Prognostic Value of Blood-Based Inflammatory Biomarkers in Secondary Hemophagocytic Lymphohistiocytosis. J Clin Immunol (2020). Journal: Journal of Clinical Immunology Summary: 1. Study intends to check utility of easily available blood ratios and other inflammatory markers in Secondary HLH(sHLH) 2.Malignancy was commonest cause with nearly half of patients …

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Autoimmunity in PID patients from Kuwait National Registry

Reference: Massaad MJ, Zainal M, Al-Herz W. Frequency and Manifestations of Autoimmunity Among Children Registered in the Kuwait National Primary Immunodeficiency Registry. Frontiers in Immunology. 2020;11:1119. Journal: Frontiers in Immunology Summary: 1. Around 20% of PID patients in the registry had autoimmune manifestation 2. There was a Significant diagnostic delay amongst these patients 3. Autoimmune …

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