Immunological features in pediatric patients with recurrent and severe infection: Identification of Primary Immunodeficiency Diseases in Merida, Venezuela

Linares, Nathalie Araujo; Bouchard, Morella; Gutiérrez, Nubia Silva; Colmenares, Melisa; Cantor-Garcia, Astrid; Gabaldón-Figueira, Juan C.; Bellorin, Ana Victoria; Rujano, Belkis; Peterson, D L; Salmen, Siham

doi:10.1016/j.aller.2019.02.002

Cited by 3 publications

(2 citation statements)

References 33 publications

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“…The differences may be due to different cohort sizes. 3,[12][13][14][15] The patients diagnosed with PID may present with different clinical findings. Recurrent infections are the most common manifestation.…”

Section: Alarm Features Suggesting Pidmentioning

confidence: 99%

Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections

Nepesov

Fırtına

Aygün

et al. 2022

Allergol Immunopathol

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Background: Primary immunodeficiency diseases (PID) usually presents itself with recurrent, severe, and unusual infections, along with autoimmunity and various other malignancies. But, the diversity of PID often makes the diagnosis of patients difficult for physicians other than clinical immunologists. This study aimed to describe the characteristics of patients diagnosed with PIDs during the inpatient treatment for infectious diseases, and to highlight the cases in which a PID diagnosis should be considered. Methods: The clinical, immunological, and molecular features of 81 pediatric patients treated for infectious diseases, who were diagnosed with a PID during hospitalization was retrospectively analyzed. The diagnosis was based on the PID criteria of the International Union of Immunological Societies. Results: The five main PID sub-types were identified. Predominantly, antibody deficiencies were the most common (61.7%) group. The average delay in diagnosis was 34.6 months, and the positive family history rate was 24.7%, while the consanguineous marriage rate was 45.7%. Around thirty-five (43%) patients were found to have mutated PID-related genes. While lower respiratory tract infections were the most common symptom, a fever of unknown origin was another remarkable diagnosis. Eight (9.9%) patients underwent allogeneic hematopoietic stem cell transplantation. Conclusions: Clinicians should consider a PID diagnosis, especially in the cases of recurrent, severe, or atypical infections. Increased knowledge of the alarm features of PID can promote early diagnosis.

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Section: Alarm Features Suggesting Pidmentioning

confidence: 99%

Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections

Nepesov

Fırtına

Aygün

et al. 2022

Allergol Immunopathol

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show abstract

“…[1][2][3][4][5][6] Symptomatic patients with these disorders are at a high risk of acquiring other infections and selected neoplastic diseases, autoimmune diseases, and allergies. [7][8][9][10] Lack of correct and timely diagnosis in most patients is a notable problem. It is speculated that 70%-80% of PID patients remain undiagnosed and are not registered in patient registries, and the rate of missed diagnosis in adults is higher than that in children.…”

Section: Introductionmentioning

confidence: 99%

Protocols of Standard of Care for Adult Patients with Primary Antibody Deficiencies Will Improve Timing of Diagnosis, Survival, and Quality of Life

Napiórkowska-Baran¹,

Więsik-Szewczyk²,

Ziętkiewicz³

et al. 2022

IJAAI

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The majority of primary immunodeficiencies (PIDs) are antibody deficiencies (PADs), and not all of them are rare diseases; As an example, Caucasian individuals suffer from selective IgA deficiency at a frequency of 1:500.In addition to infections, symptomatic patients with PAD are more likely to develop neoplastic, autoimmune, and allergic diseases. In the event that PAD is neglected or delayed for more than ten years, complications develop, eventually resulting in death. No studies have been conducted to devise and report detailed ready-to-use protocols for managing PAD to date.This study aimed to propose protocols and guidelines for the adult PAD patients’ standard care. Preparing the protocol, we considered the frequency and type of laboratory tests, imaging, endoscopic examinations, specialist consultations, and standardized recommendations for further care in the place of residence. As a result of the proposed monitoring scheme, patients can be provided with complete care in terms of their underlying conditions and comorbidities, as well as early detection of complications. This protocol will serve as a guide for physicians dealing with these patients and enable comparisons of patient groups across a variety of treatment centers, even far away from each other. A national consultant in the field of clinical immunology verified the protocol mainly developed by Polish experts from reference immunology centres for adults.

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Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency

Banday,

Nisar,

Patra

et al. 2023

J Clin Immunol

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Immunological features in pediatric patients with recurrent and severe infection: Identification of Primary Immunodeficiency Diseases in Merida, Venezuela

Cited by 3 publications

References 33 publications

Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections

Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections

Protocols of Standard of Care for Adult Patients with Primary Antibody Deficiencies Will Improve Timing of Diagnosis, Survival, and Quality of Life

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency

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