Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia.

A limited form of granulomatosis with polyangiitis in an ulcerative colitis patient receiving sulfasalazine.

This is a case report of a 31-year-old lady who is known to have ulcerative colitis for 15 years and was on mesalazine. She presented with periorbital swelling, sinusitis, epistaxis, and was found to have positive anti-neutrophil cytoplasmic antibody and anti-proteinase-3 of a high titer. Biopsy from the maxillary sinus showed chronic non-specific inflammation and biopsy from the periorbital fat revealed inflammation and granulomatous changes.

Risk factors for hospital admission among COVID-19 patients with diabetes. A study from Saudi Arabia.

Objectives: To elucidate the risk factors for hospital admission among COVID-19 patients with type 2 diabetes mellitus (T2DM).

Methods: This retrospective study was conducted at the Prince Sultan Military Medical City, Riyadh, Saudi Arabia between May 2020 and July 2020. Out of 7,260 COVID-19 patients, 920 were identified as T2DM.

Genetic Polymorphisms in Transforming Growth Factor-β, Interferon-γ and Interleukin-6 Genes and Susceptibility to Behcet's Disease in Saudi Population.

Background: Behcet's disease (BD) is a complex, inflammatory, immune-mediated multi-systemic disease of unknown etiology. Cytokines play major roles in the pathophysiology of BD, and its production may be affected by polymorphism in cytokine genes. Hence, the present study was planned to investigate any possible association between the polymorphism in TGF-β, IFN-γ, and IL-6 genes and BD in the Saudi population.

Severe aortic regurgitation complicating Takayasu's arteritis.

We present an uncommon case of a 48-year-old female patient with symptomatic presentation of a severe aortic regurgitation with aneurysm of the ascending aorta and progressive dyspnea. Detailed investigation of laboratory tests and imaging identified Takayasu's arteritis (TA) as the underlying etiology. Computed tomography scan revealed complete occlusion of the right carotid artery as well as stenosis at the origins of left subclavian and vertebral arteries.

Genetic Association of HLA-A*26, -A*31, and -B*51 with Behcet's Disease in Saudi Patients.

Background: HLA-B*51 has been universally associated with Behcet's disease (BD) susceptibility, while different alleles of HLA-A have also been identified as independent BD susceptibility loci in various ethnic populations. The objective of this study was to investigate associations of HLA-A and -B alleles with BD in Saudi patients.

Materials And Methods: Genotyping for HLA-A and HLA-B was performed using HLA genotyping kit (Lab type((R)) SSO) in 120 Saudi subjects, including 60 BD patients and 60 matched healthy controls.

Inflammation-related cytokine gene polymorphisms in Behçet's disease.

Behçet's disease (BD) is a complex, multisystemic inflammatory disorder of unclear etiology. Single nucleotide polymorphisms in tumor necrosis factor (TNF) and interleukin (IL)-10 genes have been implicated in susceptibility to BD with inconsistent results in several ethnic populations. The aim of this case-control study was to evaluate the association of TNF-α (-308G/A), TNF-β (+252A/G), and IL-10 (-1082G/A, -819C/T, and -592 C/A) polymorphisms with susceptibility of BD in Saudi patients.

Efficacy of infliximab on the acute attack of uveitis.

Uveitis is one of the major features of behcet's disease with relapse and remission pattern. Severe presentation can be resistant to the conventional treatment. Steroid has been used in the treatment of acute behcet's uveitis, although it especially has its own ocular complications when used in large doses.