October Update for Inborn Errors of Immunity

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
  • report the impaired innate immune defect and negative regulation of TBK1-IRF3 signalling leading to poor interferon production

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 


  • 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
  • et al report a patient of X-CGD who presented with pneumonia complicated with empyema

Defects in Intrinsic and Innate immunity

  • report a case of IRAK4 deficiency who presented with anti-N-methyl-D-aspartate receptor encephalitis and HHV-6 reactivation
  • 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
  • et al review the corrective options for classical and functional NK cell deficiencies with future therapeutics
  • 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


  • Scheible et al report an Open Source Registry System for Rare Diseases bridge-head to the ESID registry for a decentralised search
  • report the spread of The J Daughter Siberia Project and its impact on the awareness on the diagnosis of PID in Central Asia