Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.

PURPOSE: Early identification of inborn errors of immunity (IEIs) is crucial due to the significant risk of morbidity and mortality. This study aimed to describe the genetic causes, clinical features, and survival rate of IEIs in Omani patients. METHODS: A prospective study of all Omani patients evaluated for immunodeficiency was conducted over a 17-year period. Clinical features and diagnostic immunological findings were recorded. Targeted gene testing was performed in cases of obvious immunodeficiency. For cases with less conclusive phenotypes, a gene panel was performed, followed by whole-exome sequencing if necessary. RESULTS: A total of 185 patients were diagnosed with IEIs during the study period; of these, 60.5% were male. Mean ages at symptom onset and diagnosis were 30.0 and 50.5 months, respectively. Consanguinity and a family history of IEIs were present in 86.9% and 50.8%, respectively. Most patients presented with lower respiratory infections (65.9%), followed by growth and development manifestations (43.2%). Phagocytic defects were the most common cause of IEIs (31.9%), followed by combined immunodeficiency (21.1%). Overall, 109 of 132 patients (82.6%) who underwent genetic testing received a genetic diagnosis, while testing was inconclusive for the remaining 23 patients (17.4%). Among patients with established diagnoses, 37 genes and 44 variants were identified. Autosomal recessive inheritance was present in 81.7% of patients with gene defects. Several variants were novel. Intravenous immunoglobulin therapy was administered to 39.4% of patients and 21.6% received hematopoietic stem cell transplantation. The overall survival rate was 75.1%. CONCLUSION: This study highlights the genetic causes of IEIs in Omani patients. This information may help in the early identification and management of the disease, thereby improving survival and quality of life.

Anaphylaxis in Omani Patients: A Study from a Tertiary Care Center.

OBJECTIVES: Anaphylaxis is an acute and potentially fatal allergic reaction. No studies have yet been conducted to evaluate the spectrum of anaphylactic reactions among Omani patients. As such, this study aimed to describe the clinical features, causes, investigation, and management of anaphylaxis among patients presenting to a tertiary care center in Oman. METHODS: This retrospective study took place between August 2005 and June 2020 at the allergy and immunology clinic of Sultan Qaboos University Hospital, Muscat, Oman. All patients diagnosed with anaphylaxis during the study period were included. Data were collected from electronic medical records. RESULTS: One hundred patients were diagnosed with anaphylaxis during the study period. Of these, 52.0% were male. The mean age was 15.9±16.2 years, with 70.0% aged < 18 years old. The eosinophil count ranged from 0.0-16.9 × 109/L, with a mean of 0.8±2.2 × 109/L and a median of 0.3 (0.1-0.6) × 109/L. Total immunoglobulin (Ig) E levels ranged from 25-8706 kIU/L, with a mean of 935.1±1369.5 kIU/L and a median of 500.4 (186.0-972.5) kIU/L. The majority of patients had a family history of allergies (72.0%), and other had concomitant allergic conditions (66.0%). All were prescribed epinephrine (100%). The most common cause of anaphylaxis was food (65.0%). The second most frequent trigger was insect venom (32.0%). Most patients had one category cause (81.0%); two or more causes were present in 12.0% of patients. Clinical symptoms manifested most frequently as cutaneous (92.0%) and respiratory (85.0%). The majority of patients (87.0%) demonstrated the involvement of more than one bodily system. Mean total IgE levels were significantly higher in patients with concomitant presence of other allergic conditions (1193.8 kIU/L) than patients without another concomitant allergic disease (503.6 kIU/L; p =0.030). In addition, concomitant allergic disease is significantly higher in patients < 18 years of age (75.4%) compared to patients > 18 years of age (45.2%; p =0.010). CONCLUSIONS: Due to its life-threatening nature, knowledge of the epidemiology and clinical features of anaphylaxis in different populations is necessary to deliver rapid treatment. This study found that the clinical features of anaphylactic patients in Oman were similar to those reported elsewhere. Further research is needed to determine the true incidence of anaphylaxis in Oman to minimize associated morbidity and mortality.

Primary Immunodeficiency Diseases in Oman: 10-Year Experience in a Tertiary Care Hospital.

PURPOSE: Primary immunodeficiency (PID) diseases are rare, complex medical disorders that often are overlooked in clinical settings. There are emerging reports of PID from Middle Eastern populations. This study describes the features of PID patients in a tertiary care setting in Oman and compares them with regional and worldwide reports. METHOD: Sultan Qaboos University Hospital (SQUH) is an academic tertiary care-level hospital for specialized healthcare, including PID patients. At the time of diagnosis, patients' sociodemographics, clinical features, laboratory investigations, and management were entered in electronic form. This study included patients seen between August 2005 and July 2015. RESULTS: One hundred forty patients were registered with a minimum estimated population prevalence of 7.0/100,000. The male/female ratio was 1.6:1, the median age of onset of symptoms was 8 months, and diagnosis was 21 months with a delay of 13 months. Family history was positive in 44 %, consanguinity was present in 76 %, death of a previous sibling was present in 36 %, and there was an overall mortality in 18 %, with an 85 % probability of survival 10 years following diagnosis. The most common type of immunodeficiency was phagocytic disorders (35.0 %), followed by predominantly antibody disorders (20.7 %), combined immunodeficiency (17.8 %), other well-defined PID syndromes (15.0 %), immune dysregulation syndromes (3.5 %), complement deficiencies (3.5 %), and unclassified immunodeficiency (4.2 %). The commonest presenting infection was pneumonia (47.1 %). CONCLUSION: PID is not a rare condition in Oman. The prevalence is in concordance with reports from the region but higher than in Western populations. The findings of the current study would help to improve the awareness and management of, and policy making for PID.