Primary Immunodeficiencies: “New” Disease in an Old Country

Lee, Pamela; Lau, Yu‐Lung

doi:10.1038/cmi.2009.51

Cited by 18 publications

(12 citation statements)

References 33 publications

(24 reference statements)

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“…19 The complexities of immunodeficiencies are characterised by phenotypic heterogeneity, making recognition of some PIDs by physicians who are not specialists in the area more difficult. 20 Significant advances have been made in diagnosis and management of PIDs, resulting in reduced rates of morbidity and mortality. 21 However, clinicians in many countries are still confronted by a number of practical issues under-recognition, limited access to specialised diagnostic facilities, costly treatments, and lack of sufficient specialist centres dedicated to the care of this group of patients.…”

Section: Discussionmentioning

confidence: 99%

Doctors’ awareness concerning primary immunodeficiencies in Brazil

Dantas¹,

Aranda²,

Silva³

et al. 2015

Allergologia et Immunopathologia

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Section: Discussionmentioning

confidence: 99%

Doctors’ awareness concerning primary immunodeficiencies in Brazil

Dantas¹,

Aranda²,

Silva³

et al. 2015

Allergologia et Immunopathologia

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“…PIDs range from mild to severe forms of immunodeficiency such as severe combined immunodeficiency (SCID). Although the main clinical presentations are recurrent and chronic infections, patients also have an increased incidence of autoimmunity, lymphoproliferative disorders, and cancers [1][2][3][4]. The incidence and prevalence of PIDs are unknown, although they are estimated to affect between 1:10 000 and 1:600 individuals in over 40 countries [5].…”

Section: Introductionmentioning

confidence: 99%

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

Yazdani

Abolhassani

et al. 2017

J Investig Allergol Clin Immunol

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Primary immunodeficiency disorders (PIDs) are caused by 1 or more defects of the immune system. Patients are more likely to experience recurrent and/or severe infections and tend to develop a wide range of complications. Respiratory diseases are the main and initial manifestation in most cases and the most common complication. Pulmonary complications cause significant morbidity and mortality in patients with PIDs. Early diagnosis and appropriate treatment can prevent or at least slow the development of respiratory complications. Since the spectrum of pulmonary complications in PIDs is broad, we divided pulmonary complications into upper respiratory complications (eg, sinusitis, otitis media, and laryngeal angioedema) and lower respiratory complications (eg, pneumonia, bronchitis, bronchiectasis, interstitial lung diseases, organizing pneumonia, pulmonary adenopathies and malignancies, hyperreactive airway diseases, pulmonary dysgenesis, and adverse reactions to treatment). This review covers the main respiratory manifestations in patients with PIDs. Key words: Primary immunodeficiency disorders. Pulmonary complications. Upper respiratory tract. Lower respiratory tract. ResumenLas inmunodeficiencias primarias (PIDs) son enfermedades causadas por uno o más defectos del sistema inmunológico. Estos pacientes presentan con frecuencia infecciones recidivantes y/o severas así como otro tipo de complicaciones. Las patologías respiratorias son la principal y más frecuente manifestación y complicación de las PIDs. Las complicaciones de estas patologías pulmonares constituyen una de las principales causas de morbimortalidad entre los pacientes que sufren PIDs. El diagnóstico temprano y el tratamiento adecuado pueden prevenir, o al menos retrasar, la aparición de las complicaciones respiratorias en estos pacientes. Dado que el espectro de las enfermedades pulmonares es muy amplio, hemos dividido estas complicaciones entre aquellas que afectan a las vías aéreas superiores (sinusitis, otitis media y angioedema laríngeo, etc.) y las que afectan a las vías aéreas bajas (neumonía, bronquitis, bronquiectasias, enfermedades pulmonares intersticiales, neumonía organizada, adenopatías pulmonares y neoplasias, hiperreactividad bronquial, disgenesia pulmonar y las debidas a los efectos secundarios del tratamiento instaurado). Este artículo revisa las manifestaciones respiratorias que se observan más frecuentemente en los pacientes con PIDs. Palabras clave: Inmunodeficiencias primarias. Complicaciones pulmonares. Vías respiratorias altas. Vías respiratorias bajas.

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“…1), with our department providing e-consultation and genetic tests for patients with suspected PIDs. 17 A panel of 60 PID genes was offered and genetic tests were performed in over 500 patients and 400 family members ( Fig. 2).…”

Section: A Decade Of Multicentered Collaboration: the Asian Pid Networkmentioning

confidence: 99%

Improving care, education, and research: the Asian primary immunodeficiency network

Lee¹,

Lau²

2011

Annals of the New York Academy of Sciences

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The field of primary immunodeficiencies (PIDs) is marked by continuous discoveries in the mechanisms of disease, genetic etiologies, and treatments. A widening gap between cutting-edge scientific research and its translation to clinical practice is noticeable. To narrow this gap, collaborative networks must be made that bring together a critical mass of specialists to share the knowledge required for the next innovations. In this paper, we describe the current status of the Asian primary immunodeficiency network, which links 40 hospitals in China and Southeast Asia. Over the past 10 years, genetic studies performed on more than 500 patients have led to genetic confirmation of primary immunodeficiency in 272 patients, as well as generating cohort studies that have provided unique phenotypic observations. The network has a dynamic capacity to accommodate priorities and interests of collaborating units, from consultations and genetic testing to scientific research involving next-generation sequencing technologies.

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Primary Immunodeficiencies: “New” Disease in an Old Country

Cited by 18 publications

References 33 publications

Doctors’ awareness concerning primary immunodeficiencies in Brazil

Doctors’ awareness concerning primary immunodeficiencies in Brazil

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

Improving care, education, and research: the Asian primary immunodeficiency network

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