Genetic Causes of Bronchiectasis: Primary Immune Deficiencies and the Lung

Notarangelo, Luigi D.; Plebani, Alessandro; Mazzolari, Evelina; Soresina, Annarosa; Bondioni, Maria Pia

doi:10.1159/000101784

Cited by 44 publications

(36 citation statements)

References 168 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Bronchiectasis is still an important health care problem in developing countries 1,3,4 . In children with BE usually slowly persisting chronic respiratory symptoms are present 14,15. In cases with chronic productive cough and relapsing lower airway infections clinician should be suspicious for BE.…”

Section: Discussionmentioning

confidence: 99%

“…The pathophysiology is not clearly understood 1,2 . Advances in sanitation, development in nutritional status, use of effective antibiotics for respiratory tract infections, success in childhood immunization (especially measles and pertussis) have led to a decrease in the disease 1,3,4 . In developed countries BE secondary to cystic fibrosis (CF) is common, but in less developed countries non-CF bronchiectasis is more frequent.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Changing epidemiology of non-cystic fibrosis bronchiectasis

Bahçeci¹,

Karaman²,

Nacaroğlu³

et al. 2016

Turk J Pediatr

View full text Add to dashboard Cite

The etiology of bronchiectasis was detected as; primary ciliary dyskinesia 26.4%, protracted bacterial bronchitis 22.8%, primary immune deficiency 11.8%, bronchiolitis obliterans 8.2%, lung disease secondary to gastro-esophageal reflux 3.7%, foreign body aspiration 2.7%, tuberculosis %2.7, congenital malformation 1.8% and asthma 1.8%, respectively. In 15.4% of cases, etiology was not identified clearly. 91% of the patients were medically treated.In ten years, the frequency of asthma and tuberculosis in etiology had decreased but primary ciliary dyskinesia and primary immune deficiency had increased. Non-cystic fibrosis bronchiectasis can be followed up for a long time with medical treatment.

show abstract

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Changing epidemiology of non-cystic fibrosis bronchiectasis

Bahçeci¹,

Karaman²,

Nacaroğlu³

et al. 2016

Turk J Pediatr

View full text Add to dashboard Cite

show abstract

“…Patients with PADs are at a significantly increased risk for developing bronchiectasis [65,68,69], as we indicated in a study in which 37.5% of patients with bronchiectasis were diagnosed with defects in antibody-mediated immunity [70]. The exact prevalence of bronchiectasis in patients with PAD is unclear, although a systematic review has reported that bronchiectasis manifests in 17%-76% of cases, usually with a tubular/ cylindrical pattern affecting the proximal bronchi [71].…”

Section: Bronchiectasismentioning

confidence: 97%

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

Yazdani

Abolhassani

et al. 2017

J Investig Allergol Clin Immunol

View full text Add to dashboard Cite

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.

show abstract

“…In the absence of a specific etiology, patients undergo a wide range of diagnostic procedures to identify hereditary and non-hereditary diseases [18]. The major genetic causes of non-CF bronchiectasis are primary immune deficiencies and primary ciliary dyskinesia (PCD) [19, 20]. Acquired causes of non-CF bronchiectasis are chronic aspiration, foreign body inhalation and extrinsic airway compression [3, 18].…”

Section: Introductionmentioning

confidence: 99%

A Descriptive Study of Non-Cystic Fibrosis Bronchiectasis in a Pediatric Population from Central and Southern Italy

et al. 2008

View full text Add to dashboard Cite

Background: Non-cystic fibrosis (CF) bronchiectasis is now identified more often than in the past. Objectives: It was the aim of this study to assess the high-resolution computed tomography (HRCT) localization and extent of bronchiectasis and to determine whether asthma status, atopy and bronchiectasis distribution are associated with the etiology of bronchiectasis. Methods: We retrospectively analyzed clinical, laboratory, functional and HRCT data of 105 children with non-CF bronchiectasis at 2 tertiary respiratory units in Italy. Forty cases had bronchiectasis associated with ongoing underlying conditions, namely primary ciliary dyskinesia, primary immunodeficiency or aspiration. Results: Age at the onset of chronic cough/wheeze and at the first X-ray-documented pneumonia as well as atopy prevalence were lower in patients with ongoing underlying conditions than in those without (p = 0.049, p = 0.003 and p = 0.0008, respectively). In most cases, bronchiectasis was multilobar, and a mean of 2.5 lobes were involved. The right side was more often involved than the left (88 vs. 70%; p = 0.002), and the upper lobes were relatively spared (p < 0.000001). Right lung involvement and multilobar disease were more prevalent in children younger than 2 years at first pneumonia (p < 0.05). Conclusions: Clinical information combined with laboratory data provides additional insights into the characteristics of non-CF bronchiectasis in a large population of Italian children. This study highlights the need for longitudinal evaluations, also using HRCT, of severe and non-resolving pneumonia in children.

show abstract

Genetic Causes of Bronchiectasis: Primary Immune Deficiencies and the Lung

Cited by 44 publications

References 168 publications

Changing epidemiology of non-cystic fibrosis bronchiectasis

Changing epidemiology of non-cystic fibrosis bronchiectasis

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

A Descriptive Study of Non-Cystic Fibrosis Bronchiectasis in a Pediatric Population from Central and Southern Italy

Contact Info

Product

Resources

About