40 PUBMED indexed articles were published in the month of October 2020 on PID.
New Inborn Error of Immunity
- Beck et al report a novel auto-inflammatory syndrome associated somatic mutations in UBA1 presenting in adulthood with a severe phenotype
COVID-19 and PID
- Mantravadi et al report the recovery of X-CGD who had T cell lymphopenia from CVOID-19 with mild symptoms but delayed clearance of SARS-CoV2
- Ho et al report the clinical features and outcomes of PID patients diagnosed with COVID-19 and the worse outcomes observed for humoral deficiency patients with pre-existing autoimmune/inflammatory complications and prior lung disease
Genetics/ Reviews/ Updates
- Nicholas et al review the advancements made in the learning health systems, electronic phenotyping, artificial intelligence and use of registries for improving diagnosis and care of patients with PID
- Anderson et al review the phenotypic presentation of PID from a general paediatrician’s perspective
- Sogkas et al screened for PID associated genes in patients with rheumatic diseases and hypogammaglobulinemia and identified a variant in half of the patients suggesting a common genetic etiology of primary and secondary hypogammaglobulinemia
- Saettini et al report increased frequency of PID in children with childhood immune thrombocytopenia compared to the general population
Infections in PID
- Kennedy review the viral infections involving the nervous system in immunocompromised individuals
- Inoue et al report Cytomegalovirus laryngitis in APDS2, WAS and STAT1 GOF patients
Combined Immunodeficiency disorders
- Dosrey et al studied retrospectively the infections seen in SCID patients and observed that SCID patients with a family history had lower rates of infection compared to the ones diagnosed by NBS and also proceeded for transplantation earlier
- Silva et al report two infants of LIG1 deficiency who underwent HSCT with minimal intensity conditioning
Combined Immunodeficiency disorders with associated or syndromic features
- Uchiyama et al report the symptoms seen in CHARGE syndrome with fluctuations seen in T cell phenotype and clinical features in Omenn syndrome
Hyper IgE Syndromes
- Rubio‐Gonzalez et al report a case of DOCK8 syndrome with folliculotropic mycosis fungoides that resolved spontaneously
Ataxia-Telangiectasia
- Shad et al reported the spectrum of cellular and humoral deficiencies in AT with a detailed evaluation of T and B cell subsets
Predominantly antibody deficiencies
X linked Agammaglobulinemia
- Sudhakar et al report a case of XLA who suffered from Haemolytic Uremic Syndrome which was associated with Citrobacter freundii
Common Variable Immunodeficiency Disorders
- Ismayilov et al report a case of CVID with primary hyperparathyroidism in treatment-resistant hypocalcemia and associated enteropathy
- Amato et al review the role of miR-142 and miR-155 in CVID
- Sewell et al report a case of CVID with Inflammatory myofibroblastic tumour of the lung
- Sefer et al report of ICOS deficiency with progressive B cell loss, recurrent infections and enteropathy
Diseases of Immune dysregulation
ALPS like disorders
- Sharifinejad et al report and review the first case of Protein Kinase C Delta defect from the Iranian registry
X linked lymphoproliferative disease type 2
- Chen et al report a case of XIAP deficiency presenting with EBV induced HLH complicated with coronary artery dilation and acute renal injury
Congenital defects of phagocyte number, function, or both
- Yucel et al report long term follow-up, management options and the myeloid features seen in SMARCD2 deficiency
Chronic Granulomatous Disease
- Wu et al report a female with denovo mutation in CYBB presenting with severe neutrophilic dermatosis who expired due to MAS secondary to Providencia stuartii septicemia
Defects in Intrinsic and Innate immunity
- Foley et al report the progressive decrease in Tregs and adaptive immunity with skewing towards CD8+ effector memory cells in STAT5B deficiency
- Bhattad et al report AD STAT1 deficiency present in three generations in an Indian family
Complement Deficiencies
- Germenis et al report a patient with a deep intronic mutation seen in SERPING1 gene identified on targeted NGS panel
Phenocopies of PID
- Neven et al report the spectrum of clinical manifestations seen in RALD
Hematopoietic Stem Cell Transplantation
- NaserEddin et al report a retrospective study on BCG vaccine-related complications in immunodeficient patients who underwent HSCT highlighting the morbidity and mortality caused during immune reconstitution
- Sachdev et al report a case of Chediak-Higashi syndrome who underwent haploidentical HSCT with reduced-toxicity conditioning and post-transplant cyclophosphamide
- Chandra et al retrospectively reviewed the cohort of patients requiring myeloablative HSCT and observed that reduced toxicity busulfan-fludarabine regimen is less toxic, has a lower incidence of grades 2–4 GVHD, provides durable myeloid engraftment, and has an excellent survival
Other Management in PID
- Diaz et al report the variable clinical and immunological improvements with a favourable risk-benefit profile seen in open-label phase 1b trial of Seletalisib in patients with Activated PI3Kδ Syndromes
- Cowan et al report that subcutaneous IgPro20 manual push infusions at flow rates up to 2.0 mL/min are well tolerated and also reduce the infusion time
Newborn Screening
- Blom et al reported the parental perspective and societal acceptance on the NBS for SCID in the Netherlands
Questionnaire
- Scheible et al report an Open Source Registry System for Rare Diseases bridge-head to the ESID registry for a decentralised search