Sulaiman M Al-Mayouf   (Pediatric Rheumatology Consultant KFSH-RC), Hajar A Alreefi (Alfaisal COM graduate), Tuqa A Alsinan  (Alfaisal COM graduate), Ghada AlSalmi  (Pediatric Rheumatology KFSH-RC), Abdulaziz AlRowais  (Pediatric Rheumatology Consultant PSMMC), Waleed Al-Herz  (Pediatric Rheumatology Consultant; Kuwait), Anas M Alazami  (Pediatric Allergy and Immunology; Kuwait), Abdullah Alsonbul  (Pediatric Rheumatology KFSH-RC), Hamoud Al-Mousa (Pediatric Allergy and Immunology KFSH-RC)

This retrospective multicentral study has been accepted for publication in the Mod Rheumatol Journal on Feb. 22, 2021. The team involved pediatric allergy, immunology, and rheumatology consultants from Riyadh mainly KFSH-RC and PSMMC; and Kuwait in addition to Alfaisal COM graduates, Dr. Tuqa Alsinan and Dr. Hajar Alreefi.

Objectives: This study was conducted in order to report the phenotypic, genetic findings and outcome of children with lupus manifestations associated with primary immunodeficiency diseases (PIDs).

Methods: Data were retrospectively collected on patients with lupus manifestations and PIDs seen between 1998 and 2019. Data comprised the clinical findings and genetic testing, the response to treatment and the accrual damage related to SLE.

Results: A total of 39 patients (22 female) were reviewed. Thirty-four patients had lupus manifestations and six patients with SLE-like manifestations. Genetic analysis was performed in 25 patients. Complement deficiency was the most frequent PIDs; 26 patients were C1q deficient, three patients had C3 deficiency, two patients had C4 deficiency and one patient with heterozygous C8b variant. The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3. Mucocutaneous lesions, arthritis and lung involvement were the main clinical features. 84.1% experienced recurrent infections. The mean accrual damage was 2.7 ± 2.2. There were five deaths because of infection.

In conclusion, study results suggest that patients with lupus manifestations and early onset disease, family history of SLE or recurrent infections should undergo immunological work-up and genetic testing to rule out PIDs.

It’s worth-mentioning that this work has been presented by Dr. Tuqa and Dr. Hajar in national and international conferences. Dr. Tuqa Alsinan ranked 5th at the KFSH Pediatric Research and Recognition Day in January 2020, and Dr. Hajar Alreefi has presented it at the 26th European Pediatrics Rheumatology Congress this year.

Cordial Congratulations to the whole team and to Alfaisal University!

The full article can be accessed through the following link:
https://pubmed.ncbi.nlm.nih.gov/33563058/