Children with sickle cell disease: are they protected from serious COVID-19?

Background: COVID-19, the pandemic that hit the world in 2020, resulted in millions of deaths, with the elderly and adults succumbing to the disease more often than children. However, the presence of underlying morbidities increased the risk of death. Sickle cell disease (SCD) was previously classified as a major risk factor for severe COVID-19 disease.

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.

Hepatitis-A Infection-Induced Secondary Antiphospholipid Syndrome With Neuro-ophthalmological Manifestations.

Antiphospholipid syndrome (APS) is a multisystem autoimmune disorder that can affect children and adults alike, with a similar spectrum of thrombotic events, predominately deep vein thrombosis and stroke. It is characterized by recurrent arterial or venous thrombosis and recurrent fetal loss with the presence of antiphospholipid antibodies (aPL) like antibodies to beta-2-glycoprotein I (B-2-GPI) and anticardiolipin (aCL). The disease could be classified into primary APS in the absence of an underlying disease or secondary APS occurring secondary to autoimmune diseases, infections, malignancies, and sometimes medication use.

Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome that is characterized by strong activation of the immune system from hyperinflammatory cytokines. Symptoms of HLH patients include fever, hepatosplenomegaly, cytopenia, and hyperferritinemia. Inherited HLH is classified as primary, whereas secondary HLH (sHLH) occurs when acquired from non-inherited reasons that include severe infection, immune deficiency syndrome, autoimmune disorder, neoplasm, and metabolic disorder.

Routine Preoperative Coagulation Tests in Children Undergoing Elective Surgery or Invasive Procedures: Are They Still Necessary?

Introduction: Preoperative coagulation screening tests in pediatric patients was once routine clinical practice globally and still used as standard practice in some countries before surgical procedures to assess of perioperative bleeding risk.

Objective: The study aimed to evaluate unselected routine preoperative coagulation testing in children undergoing elective or invasive surgery to predict abnormal perioperative bleeding. The study also aimed to provide a rational approach of determining bleeding and family history of coagulation disorders as a predictive risk for bleeding.

Molecular characterization of novel splice site mutation causing protein C deficiency.

Congenital protein C deficiency is an inherited coagulation disorder associated with an elevated risk of venous thromboembolism. A Saudi Arabian male from a consanguineous family was admitted to neonatal intensive care unit in his first days of life because of transient tachypnea and hematuria. Laboratory investigations determined low platelet and protein C deficiency.

Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation.

We report here a quite rare case of severe homozygous protein C deficiency. The index case is a 9-month-old Saudi boy who was born after an uneventful pregnancy at 39 weeks. The diagnosis of epidermoloysis bullosa and the appearance of scrotal haematoma raised the diagnosis of thrombosis due to protein C deficiency.