Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy

Abstract

Background Primary immunodeficiency diseases (PID) comprise a group of more than 300 diseases that affect development and /or function of the immune system. Objectives The aim of this study was diagnosis of PID among a suspected group of neonates and infants within the first six months of life as well as identifying the warning signs of PID characteristic to this period. Method Fifty neonates presenting with warning signs of PID were enrolled in the study. Results The study revealed that twenty six patients (52%) were diagnosed with Primary Immunodeficiency, T cell/combined immunodeficiency were noted as the most common PID class (88.5%) with fourteen T-B-SCID patients (70%) and six T-B+ SCID patients (30%), phagocytic disorders were estimated to be 7.7% while 3.8% were unclassified immunodeficiency. The mean age of presentation for PID group was 1.42±1.38 months with a diagnostic lag of 3.08±1.78 months. Consanguinity was positive in 76.9% of the PID group. Lower respiratory tract infections, persistent fungal infections and lymphopenia were the most significant warning signs for diagnosing PID with a p value of (0.01). Combined, lower respiratory tract infections, fungal infections and lymphopenia were 12.3 times more likely to be associated with PID. Conclusion Focused screening in high risk neonates proved to be a valuable tool for diagnosis of PID disorders.

Primary immunodeficiency‐related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China

“…Our diagnostic yield (34.72%, 25/72) was similar to that observed in European 21 and Egyptian patients. 22 In a recent systematic review, Yska et al 23 reported that the diagnostic yield of NGS in mixed PID groups ranged from 15% to 46% (median = 25%), which is consistent with that derived from our cohort. When we inspected the associated clinical signs 24 among patients with PID from NICUs, we found that severe infections were the most common presentations, followed by atopic dermatitis and protracted diarrhoea.…”

Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center

“…[11,12] However, the studies in some PID centers also established the prevalence of CID among the cases. [2,13,14] Not all PID groups are represented in our regional PID registry. Defects in intrinsic and innate immunity, autoinflammatory disorders, and complement deficiencies were not reported.…”

“…According to the literature, these signs are very important for PID diagnostics in the neonatal period and early infancy. [14] Since there is currently no neonatal screening for PIDs in Ukraine, defining of these symptoms is very important for a timely diagnosis of these diseases. [18] This study was limited to pool of patients followed up in one regional center.…”

Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries

“…Data on the prevalence of PIDs in Egypt is lacking as there is no national registry to date. The ESID database contains data from Egypt and some information can also be gained from the few published studies (33,(45)(46)(47). CID is considered the most common disease (31%), followed by predominantly antibody deficiency (30%), welldefined syndromes with PID (17.5%), and, finally, phagocytic defects (8.1%).…”