Introduction: diagnosis of primary immunodeficiency diseases (PID) is still a challenge in
many countries in Latin America (LA), especially those that face social and economic …

Increasing physicians' awareness is one of the main ways to improve early diagnosis of rare
diseases. A survey among physicians of different specialties to evaluate the knowledge …

Objectives: To draw physicians' attention to the different warning signs of diseases of inborn
errors of immunity. Data sources: A non-systematic review of the literature was carried out in …

Results Sixty-one (59.2%) physicians gave more than 50% of correct answers. The
percentage of correct answers to the questions about warning signs of PID in children was …

Introduction. An early diagnosis of primary immunodeficiencies (PID) prevents the
development of complications and improves the quality of life of children with PID. A large …

Primary immune deficiencies are usually attributed to genetic defects and, therefore,
frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of …

Abstract Objective To apply, in Brazil, the T-cell receptor excision circles (TRECs)
quantification technique using real-time polymerase chain reaction in newborn screening for …

Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the
most critical group of inborn errors of immunity (IEI). Affected infants present with early onset …

Humoral immunological defects are frequent and important causes of
hypogammaglobulinemia, leading to recurrent infections, autoimmunity, allergies, and …

Individualised treatment, including genetic services, calls for an increased role of primary
healthcare practitioners (pHCPs) in diagnosing and caring for individuals with genetic …