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
Jørgensen et al 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

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

Defects in Intrinsic and Innate immunity

Nishimura et al 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

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
C. Eguizabal 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

Questionnaire

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