The health status and quality of life of adults with X-linked agammaglobulinemia

Howard, Vanessa; Greene, Jeremy A.; Pahwa, Savita; Winkelstein, Jerry A.; Boyle, John M.; Kocak, Mehmet; Conley, Mary Ellen

doi:10.1016/j.clim.2005.11.002

Cited by 98 publications

(83 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In his previous hospitalizations, Lower respiratory tract secretion specimens were not obtained, and no pathogenic bacteria were isolated on routine sputum culture. BTK mutations lead to impaired humoral immunity, thus rendering the patient susceptible to Streptococci, Neisseria, Enterovirus and other pathogens (14)(15)(16). In XLA patients with long-standing impairment of immunity, the possibility of occult opportunistic infections should be considered despite negative sputum culture.…”

Section: Discussionmentioning

confidence: 99%

Bruton’s agammaglobulinemia in an adult male due to a novel mutation: a case report

Liu

et al. 2016

J. Thorac. Dis.

View full text Add to dashboard Cite

X-linked agammaglobulinemia (XLA) is caused by mutation in the gene coding for Bruton's tyrosine kinase (BTK), which impairs peripheral B cell maturation and hypogammaglobulinemia. In this report, we present a case of XLA in a 22-year-old adult male. Genetic testing revealed a novel mutation located at the conserved region (c.383T>C). The patient had a history of recurrent respiratory tract infection which eventually progressed to chronic type II respiratory failure. Several pathogenic bacteria were isolated on culture of respiratory secretions obtained on bronchoscopy. The patient improved on treatment with antibiotics.

show abstract

Section: Discussionmentioning

confidence: 99%

Bruton’s agammaglobulinemia in an adult male due to a novel mutation: a case report

Liu

et al. 2016

J. Thorac. Dis.

View full text Add to dashboard Cite

show abstract

“…This observation is in agreement with previous findings showing that despite the use of appropriate treatment, many subjects with primary immunodeficiency disorder continue to develop acute and chronic infections as well as many noninfectious complications. 25,26 Lung diseases significantly impacted the quality of life of subjects with some types of primary immunodeficiency disorder 27 and were common causes of death in another group of subjects with primary immunodeficiency disorder. 28 Forty-two percent of the deaths that occurred during the current study period were due to sinopulmonary complications.…”

Section: Discussionmentioning

confidence: 99%

Sinopulmonary Complications in Subjects With Primary Immunodeficiency

Owayed

Al‐Herz

2016

Respir Care

View full text Add to dashboard Cite

BACKGROUND: The aim of this work was to describe the frequency and spectrum of sinopulmonary complications among subjects with primary immunodeficiency disorders. METHODS: The subjects included all patients with primary immunodeficiency who were registered prospectively between January 2004 and December 2013 in the Kuwait National Primary Immunodeficiency Disorders Registry. RESULTS: A total of 202 subjects were registered during the study period. Subjects with combined immunodeficiencies were the most prevalent (65 subjects, 32.1%), followed by well-defined syndromes with immunodeficiency (45 subjects, 22.2%) and predominantly antibody deficiencies (35 subjects, 17.3%). A total of 295 sinopulmonary manifestations were observed in 127 subjects (63%); 157 manifestations (53.2%) were observed among the presenting symptoms, and 138 manifestations (46.8%) occurred after establishment of the primary immunodeficiency disorder diagnosis. Sinopulmonary manifestations were more common in subjects with predominantly antibody deficiencies (2.3 manifestations/subject), followed by subjects with combined immunodeficiencies (1.75 manifestations/subject). Pneumonia was the most common manifestation (108 episodes affecting 80 subjects), followed by otitis media (81 episodes affecting 59 subjects), bronchiectasis in 28 subjects (13.8%), and asthma in 22 subjects (11%). Microbial organisms were isolated during 46 episodes of pneumonia (42.5%) (cytomegalovirus and Pneumocystis jirovecii were the most common). There were 57 deaths (28%) during the study period. Twenty-four deaths (42%) were due to pulmonary complications as follows: pneumonia (16 subjects, 8%), pulmonary hemorrhage (6 subjects, 3%), and aspiration pneumonia (2 subjects, 1%). CONCLUSIONS: Sinopulmonary complications are common in subjects with primary immunodeficiency. They can be serious and continue to occur even after proper treatment is initiated. The pulmonologist should play an important role in the management of subjects with primary immunodeficiency disorder.

show abstract

“…Chronic pulmonary disease, in particular the development of bron-chiectasis, is one of the most important complications in the evolution of patients, with direct implications regarding their quality of life and mortality. 1,2,14,[16][17][18] The determinants for the appearance of pulmonary complications are not well established. Understanding the factors that contribute to the development of these complications is highly important for its prevention.…”

Section: Introductionmentioning

confidence: 99%

Primary hypogammaglobulinemia: The impact of early diagnosis in lung complications

Dorna

Santos

Castro

et al. 2016

Rev. Assoc. Med. Bras.

View full text Add to dashboard Cite

Objective: To describe clinical features, tomographic findings and pulmonary function in pediatric patients with primary hypogammaglobulinemia (PH). Method: A retrospective cohort study of children with PH who received intravenous immunoglobulin (IVIG) and prophylactic antibiotics between 2005 and 2010. Epidemiological and clinical features, computed tomography (CT) findings, and spirometric data were compared, assuming a 5% significance level. Results:We evaluated 30 patients with PH. After the start of IVIG replacement, there was a decline in the frequency of pneumonia (p<0.001). The 11 patients with bronchiectasis in their first CT scan were older at diagnosis (p=0.001) and had greater diagnostic delay (p=0.001) compared to patients without bronchiectasis. At the end of the study, 18 patients had bronchiectasis and 27 also had other lung disorders, alone or in combination. The Bhalla score was applied to the last CT scan of 16 patients, with a median score of 11 (range 7-21), with a positive correlation between the score and the number of pneumonias after the start of treatment (r=0.561; p=0.024). The score was also correlated with forced expiratory volume in one second (FEV1) and forced vital capacity (FVC) values in 13/16 patients, with negative correlation to FEV1 previously to bronchodilator (r=-0.778; p=0.002) and after bronchodilator p=0.002). Conclusion: Pulmonary complications were common in this cohort, despite the decrease in the frequency of pneumonia with treatment. Early investigation of patients with recurrent infections for primary immunodeficiencies can reduce the frequency of these complications. The monitoring of changes in spirometry may indicate the need to carry out radiological investigation.

show abstract

The health status and quality of life of adults with X-linked agammaglobulinemia

Cited by 98 publications

References 40 publications

Bruton’s agammaglobulinemia in an adult male due to a novel mutation: a case report

Bruton’s agammaglobulinemia in an adult male due to a novel mutation: a case report

Sinopulmonary Complications in Subjects With Primary Immunodeficiency

Primary hypogammaglobulinemia: The impact of early diagnosis in lung complications

Contact Info

Product

Resources

About