Recognition of immunodeficiency in the newborn period
- E Richard Stiehm, MD
E Richard Stiehm, MD
- Editor-in-Chief — Allergy and Immunology
- Section Editor — Immunology and Immunodeficiency
- Distinguished Research Professor of Pediatrics
- David Geffen School of Medicine at UCLA
- Tim Niehues, MD
Tim Niehues, MD
- Professor of Pediatrics
- HELIOS Klinikum Krefeld
- Academic Hospital, RWTH Aachen University
- Ofer Levy, MD, PhD
Ofer Levy, MD, PhD
- Associate Professor
- Harvard Medical School
At birth, the newborn acutely faces an environment swarming with microbes. The normal newborn’s immune system is anatomically intact, antigenically naïve, and demonstrates somewhat reduced function of several immune pathways. Reduced proinflammatory responses may facilitate the transition from the normally sterile intrauterine environment to the outside world, including colonization with the commensal microbiome [1,2]. Apart from anatomic characteristics (eg, thin mucosal barriers), impaired proinflammatory and T helper cell type 1 (Th1) cytokine production and diminished cell-mediated immunity render the newborn more vulnerable to infection. However, most infants survive this period without illness due to intact innate immunity, other adaptive defense mechanisms, and maternally transferred immunoglobulin G (IgG).
Some newborns inherit a genetic immune defect that manifests at birth or early infancy, termed primary immunodeficiency (PID). PIDs are collectively relatively common, occurring in up to approximately 1 in every 1200 individuals . The incidence of severe combined immunodeficiency (SCID) and other PIDs are reviewed in detail separately in the appropriate topics. (See "Newborn screening for primary immunodeficiencies" and "Severe combined immunodeficiency (SCID): An overview", section on 'Epidemiology'.)
This topic is an overview of the presentation and identification of the general types of immune defects in the newborn/neonate (infants within the first 28 days of life) and young infant (up to three months of age), including primary and secondary immunodeficiencies. It also covers initial management and when to refer to an immunology specialist. The diagnosis of specific immunodeficiencies is discussed separately in topic reviews on the individual disorders, as is a detailed discussion of the laboratory evaluation of the immune system, including more advanced studies. The evaluation of the child with recurrent infections is also covered separately. (See "Laboratory evaluation of the immune system" and "Approach to the child with recurrent infections".)
The development of the immune system and normal newborn immunity are discussed in detail separately. (See "The development of immune cells in the fetus and neonate" and "Immunity of the newborn".)
RISK FACTORS FOR IMMUNODEFICIENCY AND INFECTION
Factors that increase the likelihood of giving birth to a infant with an immunodeficiency include genetic factors leading to primary immunodeficiencies (PIDs) and multiple other factors that can lead to secondary immunodeficiency (eg, immaturity, infection, maternal illness, medications, anatomic abnormalities).
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- RISK FACTORS FOR IMMUNODEFICIENCY AND INFECTION
- CLINICAL FEATURES SUGGESTIVE OF IMMUNODEFICIENCY
- LABORATORY EVALUATION
- Initial evaluation
- Intermediate studies
- Newborn screening
- INITIAL MANAGEMENT PRIOR TO DEFINITIVE DIAGNOSIS
- SPECIFIC DISORDERS
- Distinct immunity of the normal newborn
- Secondary immunodeficiency
- - Prematurity
- - Immunoglobulin loss
- - Maternal factors
- Primary immunodeficiencies
- - Antibody deficiencies
- - Cellular immunodeficiencies
- Severe combined immunodeficiencies (SCIDs)
- Combined immunodeficiencies
- - Phagocyte defects
- - Complement factor deficiencies
- - Other defects in the innate immune system