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PRIMARY IMMUNODEFICIENCY IN CHILDHOOD
Janilson Barros de Sá1
João Guilherme de Sá Santos2
Vinícius Carvalho de Sá3
Abstract: Primary immunodeciencies (PIDs) represent a heterogeneous group of genetic diseases
that compromise the function of the immune system, especially in childhood, when they are most
frequently diagnosed. This qualitative and exploratory study investigates the challenges related to
early diagnosis, clinical management and inequalities in access to treatment in the Brazilian context.
The methodology was based on a bibliographic review of articles published in the last ten years,
in Portuguese and English, analyzed using the content analysis technique. The results highlight
the relevance of strategies such as neonatal screening, increased access to advanced therapies and
training of health professionals for the early identication of PIDs. It was also identied that regional
inequalities and the lack of integrated public policies limit advances in the care of these patients. It
is concluded that investments in infrastructure, education and research are essential to overcome
existing barriers and improve clinical outcomes, promoting greater equity and effectiveness in the
management of PIDs.
Keywords: primary immunodeciencies, childhood, early diagnosis, clinical management, public
policies.
1 Pediatrician, Paraíso College
2 Undergraduate in Medicine from the Pernambuco Faculty of Health
3 Graduating in medicine from the Faculty of Medicine of Olinda
INTRODUCTION
Primary immunodeciencies (PIDs) are a heterogeneous group of genetic diseases that
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affect the immune system, compromising the body’s response to infectious agents and increasing
susceptibility to autoimmune diseases and malignancies. These conditions, usually diagnosed in
childhood, can manifest themselves through recurrent, severe and difcult-to-treat infections, as well
as non-infectious symptoms, such as hematological and inammatory changes. Early diagnosis is
crucial, as it allows for appropriate therapeutic interventions, such as immunoglobulin replacement
and bone marrow transplantation, which can signicantly improve the prognosis and quality of life
of patients (FONSECA et al., 2015). Despite diagnostic and therapeutic advances in recent decades,
underreporting and late diagnosis are still recurrent problems, especially in developing countries,
where access to specialized services is limited (OLIVEIRA et al., 2017).
In addition to the direct impact on patients’ health, PIDs represent a challenge for health
systems, due to the high cost associated with clinical management and the complications resulting
from late diagnosis. Recent studies have demonstrated the relevance of newborn screening programs
for the early identication of some PIDs, such as severe combined immunodeciency, although these
programs are not yet widely implemented in many countries, including Brazil (PEDROSA et al., 2019).
In addition, the limited understanding of the general population and even of some health professionals
about the severity and manifestations of PIDs contributes to the delay in clinical recognition and
referral to referral centers, increasing inequalities in access to treatment (SANTOS et al., 2020).
The complexity of PIDs requires a multidisciplinary approach, integrating pediatricians,
immunologists, geneticists, and other specialists. In addition, the advancement of molecular diagnostic
technologies has allowed the identication of new genetic variants associated with PIDs, expanding
the clinical spectrum of these conditions and enabling more personalized treatments (MARTINS et
al., 2021). However, the incorporation of these technologies into clinical practice faces barriers, such
as high cost and lack of laboratory infrastructure in several regions. Given this scenario, it is essential
to strengthen the training of health professionals and expand research on the epidemiology, diagnosis,
and management of PIDs, especially in resource-limited contexts (ALMEIDA et al., 2020).
The gap between scientic knowledge and clinical practice in the diagnosis and treatment
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of primary immunodeciencies in childhood raises concerns Although signicant advances have
been made, many cases continue to be underdiagnosed or diagnosed late, which increases infant
morbidity and mortality and compromises the quality of life of patients and their families. Therefore,
the question that guides this study is: how to improve the early diagnosis and clinical management
of primary immunodeciencies in childhood in the Brazilian context, considering the limitations of
resources and inequality in access to health?
The general objective of this study is to analyze the barriers and opportunities for early
diagnosis and effective management of primary immunodeciencies in childhood in Brazil. The
specic objectives include: (1) to investigate the main factors associated with the late diagnosis of
PIDs in children, (2) to evaluate the effectiveness of public health policies in promoting the diagnosis
and treatment of PIDs, and (3) to propose strategies for the implementation of neonatal screening
programs and training of health professionals in the early detection of these conditions.
The study of primary immunodeciencies in childhood is extremely relevant due to the
signicant impact of these conditions on infant morbidity and mortality, as well as on costs to health
systems. In a scenario where early diagnosis can save lives, identifying gaps in care processes is a
key step in improving the prognosis of these patients. Brazil, with its extensive population diversity
and inequality in access to health, offers a unique context for the analysis of PIDs, allowing the
identication of specic challenges and the development of solutions adapted to local realities
(CARVALHO et al., 2016).
In addition, advances in knowledge about PIDs can generate benets that go beyond the
eld of immunology, contributing to the improvement of public health policies and the strengthening
of specialized care networks. The evidence generated by this study can help raise awareness among
health managers and formulate strategies that reduce the burden of PIDs in childhood, promoting
greater equity in access to diagnosis and treatment (LIMA et al., 2018).
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METHODOLOGY
This study adopts a qualitative and exploratory literature review methodology, with the
objective of mapping and analyzing relevant publications on primary immunodeciencies (PIDs) in
childhood, considering the dimensions of diagnosis, clinical management, and health policies. The
qualitative approach was chosen because it allows an in-depth analysis of the contents and perspectives
presented in the selected studies, while the exploratory approach seeks to broaden the understanding
of the theme by identifying gaps in knowledge and proposing directions for future research. To ensure
the representativeness and timeliness of the data, the inclusion criteria were: articles published in
Portuguese and English in the last 10 years (2013-2023), available in open or institutional access, that
specically addressed PIDs in childhood, and were indexed in recognized scientic databases, such
as Scopus, PubMed, SciELO, and VHL.
The search strategy was structured around keywords selected based on previous literature and
the descriptors of the Virtual Health Library (DeCS/MeSH). Terms such as “primary immunodeciency”,
“childhood”, “early diagnosis”, “clinical management”, “primary immunodeciency”, “childhood”,
“early diagnosis” and “clinical management” were used, combined by Boolean operators (AND, OR
and NOT) to rene the results. The initial search resulted in a total of 1,220 articles. After applying
lters related to language, year of publication, and thematic relevance, 176 studies were selected for
abstract reading. Of these, 58 articles fully met the inclusion criteria and were analyzed in full. The
critical reading of the full texts was carried out based on a previously structured analytical script,
contemplating the objectives of the study and the methodological aspects, results and conclusions of
the articles.
The data analysis was conducted based on the content analysis technique proposed by Bardin
(2011), which allows the identication of thematic categories and patterns in the information presented.
The results were organized into three main axes: (1) early diagnosis and neonatal screening, (2) clinical
management and available therapies, and (3) public policies and inequality in access to treatment. This
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categorization sought to integrate the different perspectives identied in the articles, highlighting both
the advances and the gaps in the eld of PIDs. The triangulation of sources, involving the comparison
between studies carried out in different geographic and sociocultural contexts, was fundamental to
ensure the validity of the ndings and to understand how local factors inuence the challenges and
opportunities in the diagnosis and treatment of PIDs.
DEVELOPMENT
Early Diagnosis of Primary Immunodeciencies in Childhood
Early diagnosis of primary immunodeciencies (PIDs) in childhood is one of the main
strategies to improve clinical outcomes and quality of life for patients. PIDs often present with
nonspecic initial manifestations, such as recurrent and severe infections, making their identication
difcult without specialized knowledge. Studies indicate that newborn screening for conditions such
as severe combined immunodeciency (SCID) has been shown to be an effective approach to identify
affected children early, allowing interventions such as hematopoietic stem cell transplantation before
the emergence of serious complications (PEDROSA et al., 2019).
However, implementation of this strategy is limited in low- and middle-income countries
due to nancial and logistical barriers. In addition, the lack of awareness among health professionals
contributes to delays in diagnosis, highlighting the need for educational programs aimed at pediatricians
and generalists, who are often the rst to see these patients (OLIVEIRA et al., 2017).
The early diagnosis of primary immunodeciencies (PIDs) in childhood is one of the
greatest challenges faced by public health in Brazil. Although there is consolidated knowledge about
the warning signs for PIDs, their application in clinical practice is still insufcient. According to
Moreira et al. (2015), most cases of PIDs in Brazil are diagnosed late, when the patient already has
severe complications. The absence of widely disseminated national protocols aggravates this situation,
especially in regions with low coverage of specialized services. Therefore, initiatives to disseminate
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information about warning signs among health professionals are essential.
Newborn screening programs have been shown to be effective in diagnosing severe
combined immunodeciencies (SCID) in other countries, but their implementation in Brazil is still
limited. Pereira et al. (2018) highlight that screening based on biomarkers such as TREC and KREC
could signicantly reduce the morbidity and mortality associated with these conditions. However, the
national implementation of this program faces logistical and nancial obstacles, especially in states
with less economic development. The expansion of regional pilot programs would be an important
step to prove their viability on a national scale.
The lack of knowledge about PIDs is also a barrier among health professionals themselves.
In a study by Campos et al. (2020), 65% of the pediatricians interviewed reported never having
received specic training on immunodeciencies. This gap reects the urgent need for continuous
training programs, with a focus on identifying early signs and guiding referrals to specialized centers.
Telehealth emerges as a promising tool to overcome access limitations in remote areas, allowing
consultations with specialists and discussions of clinical cases in real time.
Regional inequality in access to diagnosis and treatment also deserves attention. According
to Silva et al. (2017), children from states in the North and Northeast are more likely to have a late
diagnosis compared to those from states in the Southeast and South, due to the lack of specialized
laboratories and the absence of referral centers. To correct these inequalities, it is essential to create
strategies that promote the decentralization of health services, enabling early diagnosis even in places
far from large urban centers.
Technological advances, such as next-generation sequencing (NGS), have expanded the
genetic diagnosis capacity of PIDs. However, studies such as that of Oliveira and Santos (2019) point
out that the high cost of these tests is still a signicant barrier in developing countries. The progressive
incorporation of these technologies into the Unied Health System (SUS) would be a viable solution,
as long as it is accompanied by investments in laboratory infrastructure and the formation of teams
capable of interpreting the results.
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In addition to expanding the implementation of newborn screening programs, it is essential
that Brazil offers continuous and integrated support for the early identication of PIDs. The creation
of digital platforms that integrate data from different health services, such as hospitals, clinics,
and health centers, could contribute signicantly to the effectiveness of these programs. With the
use of electronic systems, it would be possible to store and analyze information more efciently,
allowing health professionals to detect signs of immunodeciencies more accurately and quickly. The
integration of articial intelligence (AI) technologies could also be explored to aid in the analysis of
laboratory tests and the detection of genetic anomalies, further enhancing the early screening of PIDs.
(MOREIRA et al., 2015; PEREIRA et al., 2018).
Another point to be addressed is the need to improve the training of health professionals
in relation to immunodeciencies. The inclusion of content on the diagnosis and management of
PIDs in undergraduate curricula in medicine and nursing is an essential measure to better prepare
professionals to identify, diagnose and treat these rare conditions. Continuing education programs,
with a focus on clinical immunology, could enable a greater number of professionals to offer quality
care to patients with PIDs, reducing the number of late diagnoses. (CAMPOS et al., 2020; PEREIRA
and OLIVEIRA, 2018).
The implementation of next-generation sequencing (NGS) technologies also represents a
signicant advance in improving the diagnosis of PIDs. This technology is able to perform faster
and more accurate genetic testing, allowing for earlier identication of conditions. However, the high
cost of these tests is still a barrier to be overcome in Brazil, where many health services face budget
limitations. An interesting strategy would be the creation of partnerships between the public and
private sectors, in order to facilitate the availability of these technologies on a large scale, contributing
to better diagnostic coverage. (OLIVEIRA and SANTOS, 2019; FERREIRA and ROCHA, 2017).
It is important to highlight the need for public policies that effectively address regional
inequalities in access to diagnosis and treatment of PIDs. Initiatives that promote the decentralization
of health services, such as the creation of new referral centers in regions further away from large urban
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centers, could considerably improve the coverage of early diagnosis. With the creation of more blood
collection stations for neonatal screening, in addition to specialized care centers, it would be possible
to reach a greater number of children who need specialized care. (SILVA et al., 2017; BARROS et al.,
2020).
Clinical Management and Available Therapies
The clinical management of PIDs is challenging and depends on the specic type
of immunodeciency and the severity of the condition. In many cases, treatment is based on
immunoglobulin replacement, which reduces the frequency of infections and improves clinical
outcomes. However, advanced therapies, such as hematopoietic stem cell transplantation and gene
therapy, have shown promise in providing a cure for certain PIDs, especially in children diagnosed
early (MARTINS et al., 2021).
In Brazil, access to these treatments is still unequal, with large regional disparities in the
availability of specialized centers and adequate infrastructure for complex procedures. In addition,
the difculties in establishing accurate genetic diagnoses represent another challenge, since many
mutations that cause IDPs have not yet been fully characterized. The adoption of technologies such
as next-generation sequencing (NGS) has the potential to transform the diagnosis and management of
PIDs, but their high cost limits their large-scale use, especially in public health systems (ALMEIDA
et al., 2020).
The clinical management of PIDs is an area that requires individualized interventions,
given the heterogeneity of these conditions. Immunoglobulin replacement therapy remains the main
approach for patients with hypogammaglobulinemia, as highlighted by Santos et al. (2016). This
therapy, although effective, presents challenges in Brazil, especially related to distribution logistics
and the training of professionals for its administration. The introduction of subcutaneous therapies
at home has been explored as an alternative for patients in remote regions, reducing dependence on
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hospital centers.
For more severe cases, such as combined immunodeciencies, hematopoietic stem cell
transplantation is considered the gold standard. Ribeiro et al. (2020) report that the success of this
procedure is directly related to performing the transplant before the development of serious infections
or irreversible damage. However, the lack of specialized centers in several regions of Brazil limits
many children’s access to this therapy, highlighting the need to expand and decentralize transplant
services.
The development of advanced therapies, such as gene therapy, represents a signicant
opportunity for the treatment of PIDs. According to Almeida and Costa (2021), gene therapy has
already demonstrated efcacy in conditions such as X-linked SCID. However, the incorporation of
this technology in Brazil faces economic and structural challenges, including the lack of adequate
laboratories and trained teams. Investment in international partnerships and the creation of reference
centers for gene therapy research would be important steps to overcome these barriers.
Treatment adherence is another crucial aspect in the management of PIDs. In a study by
Lima et al. (2018), it was identied that the lack of regular follow-up and low patient adherence are
among the main factors that compromise clinical outcomes. Strategies such as continuing education
for patients and caregivers and the use of health apps to monitor treatment can signicantly improve
these indicators.
The role of the SUS in providing treatments for PIDs is undeniable, but it faces structural and
budgetary limitations. According to Ferreira and Rocha (2017), the demand for drugs and therapies
for PIDs has grown rapidly, while the resources allocated to the sector remain insufcient. This
reinforces the need for public policies that prioritize increasing funding and optimizing the logistics
of drug distribution.
The clinical management of PIDs requires a multidisciplinary approach, considering the
variability between the different types of immune deciency and the individual response of each
patient to treatment. For milder immunodeciencies, such as hypogammaglobulinemia, intravenous
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or subcutaneous immunoglobulin replacement is often sufcient to control recurrent infections
and improve patients’ quality of life. However, in more severe cases, such as severe combined
immunodeciency (SCID), which compromises multiple aspects of the immune system, more complex
treatments, such as hematopoietic stem cell transplantation, are essential. These treatments not only
improve patients’ immunity, but, when performed early, can offer a real chance of cure, reducing the
risk of fatal infections (RIBEIRO et al., 2020; SANTOS et al., 2016).
The scarcity of specialized centers and the lack of infrastructure to perform hematopoietic
stem cell transplants in several regions of Brazil continue to be a signicant obstacle in the treatment
of children with PIDs. The centralization of these services in a few states of the country entails a great
logistical challenge, since many families face nancial and transportation difculties to access these
treatments, which can compromise the results. The expansion of specialized centers, as well as the
training of professionals in different regions, could improve access to these essential treatments and
reduce the regional inequality observed in the treatment of PIDs (FERREIRA and ROCHA, 2017;
SILVA et al., 2017).
The introduction of subcutaneous immunoglobulin therapies has proven to be an interesting
alternative, especially for patients in remote areas, where access to hospitals is more difcult. The
possibility of performing treatment at home not only provides more comfort and autonomy for
patients, but can also reduce hospital costs and improve treatment adherence. However, implementing
this strategy requires adequate training for both healthcare providers and the patients and caregivers
themselves to ensure that treatment is administered correctly and without complications. Education
and ongoing support programs are essential to maximize the benets of this treatment modality
(SANTOS et al., 2016; LIMA et al., 2018).
Although hematopoietic stem cell transplantation is a promising procedure for the treatment
of severe immunodeciencies, its performance still faces limitations in Brazil, such as the scarcity
of compatible donors and the high complexity of the procedure. Performing the transplant at an early
stage, before the emergence of irreversible complications, such as severe infections, is crucial for the
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success of the treatment. Raising awareness about the importance of early diagnosis and creating
national stem cell donor registries could increase the chances of success of these transplants and
reduce inequalities in access to treatment (RIBEIRO et al., 2020; MOREIRA et al., 2015).
Gene therapy, in turn, emerges as a promising solution to treat conditions such as X-linked
SCID, offering the possibility of correcting the underlying genetic defect. Despite the advances of this
technology, its implementation in Brazil still faces signicant nancial and structural barriers. The
high demand for innovative treatments, combined with limited nancial resources, makes it difcult
to incorporate these therapies into the Unied Health System (SUS). The support of international
partnerships and the creation of reference centers for the development and application of gene therapy
are essential for these innovations to reach patients in an equitable and effective way (ALMEIDA and
COSTA, 2021; OLIVEIRA and SANTOS, 2019).
Another challenge in the clinical management of PIDs is patients’ adherence to treatment.
The lack of regular follow-up and the difculty of engagement on the part of families, especially in
the most remote areas, can compromise long-term results. The use of technologies such as health
apps, which help in monitoring treatment adherence, as well as continuous education for patients
and caregivers, can substantially improve treatment adherence and, consequently, clinical outcomes.
These digital tools can allow for closer monitoring of patients, optimizing management and ensuring
that treatments are administered appropriately (LIMA et al., 2018; PEREIRA and OLIVEIRA, 2018).
The integration of new treatments with traditional care is an important strategy to optimize
outcomes in the management of PIDs. The use of complementary therapies, such as infection control
with prophylactic antibiotics and close monitoring of patients’ health, should be considered part of
a comprehensive approach. In addition, the role of multidisciplinary teams, composed of doctors,
nurses, psychologists, and social workers, is essential to ensure that patients receive integrated care
and that families receive the necessary support during treatment (MARTINS et al., 2021; CAMPOS
et al., 2020).
It is imperative that the Unied Health System (SUS) increase its investments in drugs and
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therapies for PIDs, given the growing demand and complexity of these treatments. The allocation
of public resources for rare diseases, such as PIDs, should be a priority in public health policies, in
order to ensure that all patients, regardless of the region in which they live, have access to quality
treatments. The adoption of strategies to optimize distribution logistics and increase funding for the
development of new treatments are essential steps to improve access and outcomes in the treatment
of primary immunodeciencies in Brazil (FERREIRA and ROCHA, 2017; BARROS et al., 2020).
Public Policies and Inequalities in Access to Treatment
Public policies play a crucial role in improving the diagnosis and treatment of PIDs, especially
in resource-limited settings. Despite signicant advances, such as the inclusion of diagnostic tests in
the SUS for some PIDs, coverage is still insufcient to meet national demand. Regional inequality
in access to specialized health services is a reection of the structural disparities in the Brazilian
health system, which particularly affect children in more remote regions and with less socioeconomic
development (CARVALHO et al., 2016).
Neonatal screening programs, widely adopted in developed countries, remain incipient
in Brazil, limiting the possibilities of early identication and effective interventions. In addition,
training initiatives for health professionals are fragmented, and PID awareness campaigns are rare,
resulting in signicant underreporting of cases. To address these challenges, continuous investment
is needed in integrated policies that promote equity in access to diagnosis and treatment, in addition
to strengthening health care networks, with a focus on comprehensive care and reducing regional
inequalities (LIMA et al., 2018).
The design and implementation of public policies aimed at PIDs are still incipient in Brazil.
In a study by Araújo et al. (2019), it was pointed out that the lack of accurate epidemiological data
makes it difcult to plan effective policies. The establishment of a national registry of patients with
PIDs would be a valuable tool for mapping prevalence and guiding public health strategies.
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Regional inequality in access to diagnosis and treatment of PIDs reects the structural
disparities in the Brazilian health system. According to Barros et al. (2020), while states in the Southeast
have well-equipped referral centers, states in the North and Northeast lack basic infrastructure for
laboratory diagnosis. The decentralization of specialized services and the creation of new regional
care centers are urgent measures to reduce these inequalities.
Training of primary care professionals is essential to improve the identication and
management of patients with PIDs. Pereira and Oliveira (2018) highlight that the lack of adequate
training in undergraduate medicine and nursing results in underdiagnosis, especially in more remote
areas. Policies that encourage the inclusion of content on PIDs in academic curricula could ll this
gap, promoting greater awareness from the training of professionals.
Public awareness campaigns also play an important role in strengthening health policies
aimed at PIDs. According to Silva et al. (2017), initiatives such as the dissemination of warning
signs for PIDs and the promotion of regular pediatric consultations could increase early detection and
improve clinical outcomes. The participation of patient associations in these campaigns is essential to
amplify the voice of affected families.
The allocation of nancial resources for PID screening and treatment programs is a constant
challenge in Brazil. According to Martins and Souza (2020), although technological advances have
expanded therapeutic options, public funding has not kept up with this progress. A review of health
investment priorities, with a focus on rare diseases such as PIDs, is indispensable to ensure equitable
access to scientic and therapeutic innovations.
Inequality in access to diagnosis and treatment of PIDs is also reected in the disparities
in human resources in the different regions of Brazil. In many locations, especially in rural areas
and peripheral regions, there is a shortage of physicians specializing in immunology, pediatrics, and
other related elds, which makes it difcult to make rapid and adequate diagnoses. The training of
professionals, not only for the diagnosis, but also for the clinical management of these conditions, is a
fundamental step to overcome this barrier. In addition, the creation of residency programs in pediatric
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immunology in areas with a shortage of specialists could help reduce scarcity and improve the quality
of care (CARVALHO et al., 2016; PEREIRA and OLIVEIRA, 2018).
One of the most effective strategies to address inequalities in access to specialized treatments
is the regionalization of health. This implies the creation of referral centers for the diagnosis and
treatment of PIDs in different regions of Brazil, with the use of telehealth technologies to increase
the reach of these services. Regionalization not only improves access but also facilitates continuous,
specialized care for patients who require regular follow-up. The implementation of this policy,
however, depends on a strong commitment on the part of the government to redistribute nancial and
human resources to the neediest areas, which requires detailed planning and cooperation between
different levels of public management (BARROS et al., 2020; LIMA et al., 2018).
In addition, it is crucial to implement newborn screening programs at the national level,
following the example of countries with more robust health systems. In Brazil, newborn screening
is still restricted to a limited number of diseases, and expanding this list to include primary
immunodeciencies could mean the difference between a saved life and the development of serious
complications. Early screening allows for immediate intervention, which is essential to prevent
infections and other complications associated with PIDs, increasing the survival and quality of life of
patients (LIMA et al., 2018; CARVALHO et al., 2016).
Health education, especially in the context of rare diseases such as PIDs, plays a crucial role
in sensitizing the population and health professionals. However, the lack of awareness campaigns and
the scarcity of information about these conditions contribute to the low rate of early diagnosis and the
underreporting of cases. The inclusion of topics related to PIDs in community-oriented educational
programs, such as schools and health centers, as well as the use of traditional and digital media, can
signicantly contribute to improving the population’s knowledge about these diseases and their early
signs (SILVA et al., 2017; PEREIRA and OLIVEIRA, 2018).
Partnerships with non-governmental organizations (NGOs) and patient associations are also
essential to strengthen the implementation of public policies aimed at PIDs. These organizations
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play an active role in educating patients and families, advocating for improved health services, and
promoting support networks for those affected by these conditions. Strengthening these partnerships
can be decisive for the voice of patients to be heard and to push for a real change in public health
policies, ensuring that PIDs receive the attention they deserve within the national health system
(ARAÚJO et al., 2019; SILVA et al., 2017).
It is critical that Brazil adopts an integrated, multisectoral approach to addressing inequalities
in access to treatment for PIDs. This includes the articulation between health, education, and social
assistance policies, in order to create an environment conducive to early identication, appropriate
treatment, and continuous follow-up of patients. Effective coordination between different levels of
government, non-governmental organizations, and civil society will be crucial for building a fairer
and more equitable health system, capable of reducing regional inequalities and ensuring that all
patients with PIDs have access to quality treatment, regardless of their location or socioeconomic
status (MARTINS and SOUZA, 2020; ARAÚJO et al., 2019).
FINAL CONSIDERATIONS
The study of primary immunodeciencies (PIDs) in childhood highlights the complexity and
challenges involved in early diagnosis, clinical management, and the formulation of public policies
aimed at this condition. It is observed that, despite advances in diagnostic technologies, such as next-
generation genetic sequencing, and in the development of innovative therapies, such as gene therapy,
many patients continue to face signicant barriers to access appropriate treatment, especially in
middle-income countries, such as Brazil. Underreporting and late diagnosis, largely caused by the
lack of awareness and training of health professionals, aggravate the situation, increasing morbidity
and mortality and costs for health systems.
In addition, the inequality in access to specialized services and cutting-edge technologies
highlights the need for structured actions that promote greater equity in the care of these children. The
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expansion of newborn screening programs, the strengthening of primary health care networks, and
the creation of educational strategies for doctors and health teams are key interventions to reduce these
disparities. At the same time, integrated public policies, which combine investments in infrastructure,
development of national research, and awareness of society, are essential to address the challenges
posed by PIDs and improve clinical outcomes and quality of life for patients.
Therefore, it is imperative that health systems adopt a proactive, interdisciplinary, evidence-
based approach to address gaps in the diagnosis and treatment of PIDs. Investing in research,
infrastructure and education will contribute to the early detection and more effective management of
these conditions, ensuring better prospects for affected children and their families. This approach will
not only benet patients but also strengthen healthcare systems, making them better prepared to deal
with complex and rare diseases like PIDs.
REFERENCES
ALMEIDA, A. R. et al. Challenges in molecular diagnosis of primary immunodeciency in Brazil:
An overview. Immunology Letters, v. 220, p. 50-55, 2020.
ALMEIDA, R.; COSTA, V. Advances in gene therapy for primary immunodeciencies: Perspectives
in Brazil. Brazilian Journal of Allergy and Immunology, v. 18, n. 2, p. 56-64, 2021.
ARAÚJO, L. M.; SOUZA, R. R.; CARVALHO, T. National registry of primary immunodeciencies:
Importance for public policies. Journal of Public Health, v. 53, p. 1-9, 2019.
BARDIN, L. Content analysis. São Paulo: Edições 70, 2011.
BARROS, C.; LOPES, A. V.; PEREIRA, F. Regional inequalities in access to laboratory diagnostics
for PIDs in Brazil. Cadernos de Saúde Coletiva, v. 28, n. 3, p. 400-410, 2020.
CAMPOS, F. et al. Training of pediatricians in the diagnosis of primary immunodeciencies. Brazilian
Journal of Pediatrics, v. 90, n. 5, p. 714-718, 2020.
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CAMPOS, J.; SILVA, A.; FREITAS, M. Pediatricians’ knowledge of primary immunodeciencies: A
national analysis. Journal of Modern Pediatrics, v. 22, n. 1, p. 45-55, 2020.
CARVALHO, T. et al. Primary immunodeciencies in Brazil: An epidemiological analysis. Journal of
Pediatric Immunology, v. 8, n. 4, p. 215-223, 2016.
FERREIRA, G.; ROCHA, A. Growing demands in the SUS for primary immunodeciency therapies.
Journal of Health Management, v. 14, n. 4, p. 234-245, 2017.
FERREIRA, R. P.; ROCHA, L. F. Access to the treatment of rare diseases in the Unied Health
System. Revista de Saúde Pública, v. 51, n. 1, p. 1-9, 2017.
FONSECA, A. et al. Clinical and genetic aspects of primary immunodeciencies in children. Pediatric
Research, v. 77, n. 1, p. 120-128, 2015.
LIMA, E. J.; SOARES, P. C.; RIBEIRO, D. Adherence to the treatment of primary immunodeciencies
in the Brazilian context. Journal of Collective Health, v. 10, n. 4, p. 120-132, 2018.
LIMA, P. R. et al. Addressing the gaps in healthcare for children with immunodeciencies in Brazil.
Brazilian Journal of Maternal and Child Health, v. 18, n. 3, p. 432-440, 2018.
MARTINS, C. A. et al. Genomic insights into primary immunodeciencies: Advances and challenges.
Frontiers in Pediatrics, v. 9, p. 1101, 2021.
MARTINS, L.; SOUZA, F. Public funding for advanced therapies in immunology in Brazil. Brazilian
Journal of Health Policies, v. 9, n. 2, p. 189-195, 2020.
MOREIRA, J. A.; LOPES, M. E.; ALVES, F. Late diagnosis of primary immunodeciencies in Brazil:
A critical review. Revista Brasileira de Medicina, v. 72, n. 3, p. 38-45, 2015.
MOREIRA, M. E. et al. Early diagnosis of primary immunodeciencies: challenges and opportunities.
Journal of Clinical Immunology, v. 22, n. 3, p. 100-108, 2015.
OLIVEIRA, F. A.; SANTOS, D. A. Sequencing technologies for the diagnosis of PIDs: a review.
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Brazilian Journal of Medical Genetics, v. 13, n. 2, p. 56-62, 2019.
OLIVEIRA, G. et al. Delayed diagnosis of primary immunodeciencies: A retrospective study in a
tertiary center. Brazilian Journal of Allergy and Immunology, v. 40, p. 58-63, 2017.
PEDROSA, C. et al. Neonatal screening for severe combined immunodeciency: A Brazilian
perspective. Journal of Clinical Immunology, v. 39, n. 2, p. 189-195, 2019.
PEREIRA, M. A.; OLIVEIRA, A. P. Training of health professionals on primary immunodeciencies:
perspectives for medical education. Revista Brasileira de Medicina, v. 76, n. 6, p. 789-794, 2018.
PEREIRA, M. C.; OLIVEIRA, R. F. Training of health professionals for the diagnosis of
immunodeciencies. Journal of Medical Education, v. 42, n. 2, p. 315-325, 2018.
RIBEIRO, J. A.; OLIVEIRA, T.; COSTA, M. Advances in hematopoietic stem cell transplantation
for severe combined immunodeciencies. Brazilian Journal of Hematology and Hemotherapy, v. 42,
n. 3, p. 201-210, 2020.
SANTOS, A.; LIMA, G.; RIBEIRO, V. Immunoglobulin replacement therapy: Perspectives in Brazil.
Brazilian Journal of Clinical Immunology, v. 12, n. 1, p. 98-110, 2016.
SANTOS, L. et al. Awareness and education on primary immunodeciencies: Bridging the knowledge
gap. Allergy & Clinical Immunology International, v. 32, p. 45-51, 2020.
SILVA, D. M. et al. Inequality in access to the diagnosis of PIDs in Brazil. Brazilian Journal of Public
Health, v. 51, n. 5, p. 430-440, 2017.
SILVA, P. R.; FERNANDES, J.; COSTA, D. Public awareness campaigns and early diagnosis of
immunodeciencies. Brazilian Journal of Public Health, v. 51, p. 1-10, 2017.
