Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency Unmasked by Persistent Lymphopenia and Prolonged Severe SARS-CoV-2 Infection in a Three-Week-Old Neonate.

Adenosine deaminase (ADA) deficiency, an autosomal recessive variant, is the second most common form of severe combined immunodeficiency (SCID). We report a unique case of a three-week-old neonate who presented with prolonged and severe SARS-CoV-2 infection associated with persistent lymphopenia, subsequently revealing ADA-deficient SCID. He presented with mild and insidious symptoms, and then his clinical condition rapidly deteriorated. He required ICU admission and mechanical ventilation and developed multiple co-infections including opportunistic pathogens. Flow cytometry and whole exome sequencing diagnosed ADA-deficient SCID.  This case highlights the importance of recognizing primary immunodeficiency disorders in children who consistently display lymphopenia and experience prolonged opportunistic and viral infections. Detecting lymphopenia should prompt consideration of SCID, serving as a straightforward and cost-effective screening approach, particularly in nations such as the United Arab Emirates where T-cell receptor excision circles (TRECs) are not part of newborn screening protocols.

Indications, Efficacy, and Complications of Pediatric Bronchoscopy: A Retrospective Study at a Tertiary Center.

Background Bronchoscopy is an essential procedure for evaluating, diagnosing, and treating pediatric respiratory diseases. In this study, we demonstrate the indications and contraindications of bronchoscopy done in a tertiary referral hospital, Al Qassimi Woman's and Children's Hospital (AQWCH) in Sharjah, United Arab Emirates (UAE), in order to achieve better service. This study aims to evaluate patients' characteristics, diagnostic and therapeutic indications, and complications of bronchoscopy. Material and method This retrospective chart review included children aged between one day and 13 years, admitted to AQWCH, who underwent bronchoscopy (rigid or flexible) procedures between January 2018 and December 2019. All patients were identified by using a computerized search of hospital discharge diagnosis, which was codified as "pediatric bronchoscopy, flexible, rigid, bronchoalveolar lavage". The main study outcome measure was to evaluate patients' characteristics, diagnostic or therapeutic indications, bronchoalveolar lavage (BAL) analysis, as well as complications of bronchoscopy at AQWCH.  Results There were 72 pediatric bronchoscopies (rigid and flexible) performed in patients aged less than 13 years old; the reason for bronchoscopy procedure was diagnostic in 51% and both diagnostic and therapeutic in 49%. Cough was the most common symptom (n=53; 74%), and chest recession was the most common clinical finding (n=46; 64%). Foreign body aspiration was the main indication (n=23; 32%), followed by stridor (26%). Consolidation was the most common radiological finding. Foreign body was the common finding, seen in 25% of bronchoscopies, followed by tracheomalacia in 17%. The suspected diagnosis was confirmed in 89%, and management change was needed in 54% of patients. The main complication during the procedure was desaturation (26%), and cough was the main post-bronchoscopy complication (14%). BAL was done for 28 (39%) patients, in which BAL culture was positive in 75%. Rigid bronchoscopy was done when foreign body aspiration was suspected based on positive history in 70%, abnormal physical examination in 60%, and chest X-ray abnormalities in 39% of patients. Sensitivity and specificity for patient history, physical examination, and chest X-ray were 80% and 83%, 66% and 60%, and 40% and 66 %, respectively. Conclusion Bronchoscopy is an important tool for evaluating, diagnosing, and treating pediatric respiratory diseases. While it is a safe procedure, it still needs a careful selection of patients as it is invasive.