World Primary Immunodeficiency Week Virtual Issue

22–29 April is World Primary Immunodeficiency Week. Primary immunodeficiencies (PIs or PIDs) are caused by mutations in single genes that affect the development and/or function of immune cells. As a result, patients with PIDs have increased susceptibility to life-threatening infections, which often require life-long or invasive therapeutic interventions such as stem cell transplantation, gene therapy, prophylactic antibiotics, enzyme/immunoglobulin replacement and administration of steroids. The 2022 update on the classification of gene defects that cause PIDs from the International Union of Immunological Societies (IUIS) expert committee is due to be published later in the year and will include >480 genes, a massive increase from the 430 reported in the 2019 update. 

Around 6 million people worldwide are thought to live with primary immunodeficiencies, with 70–90% of these cases still undiagnosed. Current therapies for several PIDs include immunoglobulin therapies, haematopoietic stem cell transplantation, gene therapy and in the case of infection, aggressive use of antibiotics, antifungals and interferon to stimulate immune system function.

The official journal of the British Society for Immunology, Clinical & Experimental Immunology (CEI), has a dedicated ‘Immunodeficiency’ section and to call attention to World Primary Immunodeficiency Week, CEI has created this Virtual Issue highlighting some of our most impactful primary immunodeficiency research from the last three years. This collection features cutting-edge reviews, editorials and original research on topics such as newborn screening for severe combined immunodeficiency; a pilot study on the utility of whole genome sequencing technologies to diagnose PIDs; a large systemic review on the comparisons between two rare PIDs: CTLA-4 haploinsufficiency and LRBA deficiency; and given the current global pandemic, a timely report on the outcomes of UK patients with primary and secondary immunodeficiency following SARS-CoV-2 infection. 

We hope you enjoy reading this collection of articles and support World Primary Immunodeficiency Week by spreading awareness on social media using the hashtag #WorldPIWeek. If you share these articles, please loop in @CEIjournal!

Please continue to support CEI by reading our articles and sending in your manuscripts for publication!

Articles: 

Analysis of scoring systems for primary immunodeficiency diagnosis in adult immunology clinics

K Toms, E Gkrania‐Klotsas and D Kumararatne 

A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity

Adiratna Mat Ripen, Chai Teng Chear, Mohd Farid Baharin Revathy Nallusamy, Kwai Cheng Chan, Asiah Kassim, Chong Ming Choo, Ke Juin Wong, Siew Moy Fong, Kah Kee Tan, Jeyaseelan P Nachiappan, Kai Ru Teo, Mei Yee Chiow, Munirah Hishamshah, Hamidah Ghani, Rikeish R Muralitharan and Saharuddin Bin Mohamad

​Progressive B cell depletion in human MALT1 deficiency
Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi

Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergy
B Rösler, B Heinhuis, X Wang, R Silvestre, LAB Joosten, M G. Netea, P Arts, T Mantere, DJ Lefeber, A Hoischen and FL van de Veerdonk