Primary immunodeficiency investigation in patients during and after hospitalization in a pediatric Intensive Care Unit

Abstract

Objective: To analyze whether the patients with severe infections, admitted in the Pediatric Intensive Care Unit of the Hospital de Clínicas of the Universidade Federal de Uberlândia, underwent the active screening for primary immunodeficiencies (PID). Methods: Retrospective study that assessed the data records of patients with any severe infections admitted in the Pediatric Intensive Care Unit, covering a period from January 2011 to January 2012, in order to confirm if they performed an initial investigation for PID with blood count and immunoglobulin dosage. Results: In the studied period, 53 children were hospitalized with severe infections in the Pediatric Intensive Care Unit, and only in seven (13.2%) the initial investigation of PID was performed. Among these patients, 3/7 (42.8%) showed quantitative alterations in immunoglobulin G (IgG) levels, 1/7 (14.3%) had the diagnosis of cyclic neutropenia, and 1/7 (14.3%) presented thrombocytopenia and a final diagnosis of Wiskott-Aldrich syndrome. Therefore, the PID diagnosis was confirmed in 5/7 (71.4%) of the patients. Conclusions: The investigation of PID in patients with severe infections has not been routinely performed in the Pediatric Intensive Care Unit. Our findings suggest the necessity of performing PID investigation in this group of patients.

Severe Pneumonia in a Previously Healthy Infant

“…10 However, evidence suggests that diagnosis of IEI in the ICU may be delayed or missed, which can alter treatment trajectory and patient outcomes given the high mortality among immunodeficient patients who require mechanical ventilation or have multiorgan failure. 10,11 This case also highlights the utility of rapid WES as a clinical adjunct in diagnosis and its importance in diagnostic dilemmas. This is especially relevant in the rapidly expanding field of IEI as new monogenic diseases are routinely discovered.…”

“…10 However, evidence suggests that diagnosis of IEI in the ICU may be delayed or missed, which can alter treatment trajectory and patient outcomes given the high mortality among immunodeficient patients who require mechanical ventilation or have multiorgan failure. 10,11…”

BT595, a 10% Human Normal Immunoglobulin, for Replacement Therapy of Primary Immunodeficiency Disease: Results of a Subcohort Analysis in Children

“…Primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) are a class of about 430 disorders characterized by an intrinsic defect in the human immune system [ 1 ]. Patients with antibody deficiency, including children, present with recurrent, often severe, bacterial infections more than usually observed for their age group [ 2 ]. These infections affect the respiratory system, GI tract, and other organs [ 3 ].…”

Intravenous immunoglobulin 10% in children with primary immunodeficiency diseases

“…Primary immunodeficiency diseases (PID) encompass over 320 molecularly defined disorders that affect the development and/or function of the adaptive and innate immune systems [1]. Children with antibody deficiency present with recurrent, often severe, bacterial infections, which affect the respiratory system, GI tract, skin and other organs [2,3]. Infusions of immunoglobulin G (IgG) provide these patients with specific antibodies to prevent severe bacterial and viral infections and decrease hospitalization [4][5][6][7].…”