Hypogammaglobulinemia and Common Variable Immunodeficiency

Cunningham‐Rundles, Charlotte; Warnatz, Klaus

doi:10.1016/b978-0-12-405546-9.00014-5

Cited by 7 publications

(7 citation statements)

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“…In patients with immunodeficiency, lung disease such as BE or parenchymal changes contribute to poorer prognosis. 6 Out of 8 previously reported patients with BE, 1 died from pneumonia at 58 years; others had significant respiratory symptoms and 6 suffered from pneumonia. 1 BE was progressive in all those with longitudinal follow-up extending to adulthood.…”

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confidence: 95%

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High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

Kostjukovits

Klemetti

Föhr

et al. 2017

Journal of Allergy and Clinical Immunology

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High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia To the Editor: Cartilage-hair hypoplasia (CHH, MIM #250250) is a metaphyseal chondrodysplasia with variable immunodeficiency and increased risk of malignancy. We previously showed that in patients with CHH with chronic respiratory symptoms, the prevalence of bronchiectasis (BE) is 52%. 1 The prevalence of BE and the contributing risk factors in the overall CHH population remain unknown. High-resolution computed tomography (HRCT) is the criterion standard investigation for assessing BE; however, radiation exposure is a concern. Pulmonary changes in patients with CHH have not been examined systematically and the applicability of lung magnetic resonance imaging (MRI) in assessing their lung pathology is unclear. We investigated the prevalence of BE in a random cohort of 34 Finnish patients with genetically confirmed CHH (6 men, 28 women; median age, 39 years, range, 13-68 years). All patients or caregivers gave their written informed consent. The Institutional Research Ethics Committee approved the study. We collected clinical data, obtained blood tests, and performed lung HRCT (34 of 34) and MRI (16 of 34) (for detailed imaging protocols, see Appendix E1 in this article's Online Repository at www. jacionline.org). We analyzed the clinical and immunologic correlates with BE with the Fisher exact test, the Mann-Whitney test, and multiple logistic regression analysis. Performance of MRI compared with HRCT was determined by the Spearman rank correlation coefficient (rho). Table I presents the patients' clinical and laboratory characteristics. HRCT showed BE in 10 of 34 patients (29%), aged 29 to 68 years. BE was unilateral (n 5 2) or bilateral (n 5 8) and was located most commonly in the lower lobes and right middle lobe, but was also found in all other lobes (Fig 1). Additional findings on HRCT were acute inflammation (n 5 3), fibrosis-like changes (n 5 6), and nonspecific subpleural nodules of less than 0.5 cm in size (n 5 8). MRI showed lung abnormalities in 8 of 16 patients and had a good correlation with HRCT (overall r, 0.820; P < .001) (see Table E1 in this article's Online Repository at www.jacionline.org). Patients with BE had significantly higher serum IgG and white blood cells, total lymphocyte, and CD16/56 1 cell counts (Table I). However, these parameters correlated significantly with age (see Fig E1 in this article's Online Repository at www.jacionline.org). Patients with BE tended to have more sinus infections, pneumonia, and chronic cough (defined as ongoing daily cough lasting > _1 year). BE was diagnosed in 4 of 6 patients with a history of smoking, but when controlled for age, this association became insignificant. In the multiple logistic regression analysis, only higher CD16/56 1 cell counts remained associated with the presence of BE (P 5 .026; B

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confidence: 95%

“…BE, Bronchiectasis; F, female; IVIG, intravenous immunoglobulin; M, male; PPV, polysaccharide pneumococcal vaccine (Pneumovax); WBC, white blood cell. *Local laboratory or previously published reference values [2][3][4][5][6] were applied for the tested parameters. Spearman correlation coefficient (rho) 0.392 (P 5 .022).…”

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confidence: 99%

High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

Kostjukovits

Klemetti

Föhr

et al. 2017

Journal of Allergy and Clinical Immunology

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“…syndrome with a heterogeneous, often undefined genetic background 1,. 2 Common to most 96 patients is a severe reduction in circulating class-switched memory B cells and plasma cells…”

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Disturbed canonical nuclear factor of κ light chain signaling in B cells of patients with common variable immunodeficiency

Keller

Cseresnyés

Stumpf

et al. 2017

Journal of Allergy and Clinical Immunology

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“…CVID: CVID was referred to male or female patients with a marked decrease of IgG (at least 2 SD below the mean for age) and a marked decrease in at least one of the isotypes IgM or IgA [5] with an onset of immunodeficiency at greater than 2 years of age and absence of isohemagglutinins and/or poor response to vaccines after exclusion of cellular defects. XLA: The diagnostic criteria for XLA in this study were male gender with less than 1%-2% of CD19 + B cells and mutation in Btk or absence of Btk mRNA on northern blot analysis of neutrophils or monocytes [6].…”

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confidence: 99%

Pulmonary complications of predominantly antibody immunodeficiencies in a tertiary lung center

Mahdaviani

Darougar

Mansouri

et al. 2018

Interventional Medicine and Applied Science

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Background and aims Respiratory infections are expressed very soon in the life in humoral immunodeficiencies and often lead to chronic irreversible complications such as bronchiectasis and chronic airflow limitation. This study was conducted to evaluate the pulmonary complications of predominantly antibody immunodeficiencies to show the benefits of timely diagnosis and appropriate therapy. Patients and methods The information of 48 patients involved with a type of predominantly antibody immunodeficiencies, including sex, type of primary immunodeficiency, age at the onset of symptoms, age at diagnosis, recurrent infections, respiratory symptoms, and pulmonary radiological and functional abnormalities were recorded and analyzed. Results In 48 patients evaluated, the mean age at diagnosis was 25.63 years. The mean diagnostic delay was estimated to be 13.62 years. The most recurring clinical manifestations, sinusitis (69.6%), otitis (43.5%), and recurrent pneumonia were the cause of frequent admissions in 68.8% of these patients. Bronchiectasis was frequently found (58.3%) in these patients mostly involving the middle and lower lobes (48.8% and 41.5%, respectively). Conclusions Respiratory complications, infectious or non-infectious, determine the prognosis of the disease in patients with predominantly antibody immunodeficiencies. Timely diagnosis and appropriate management may improve life expectancy and the quality of life in these patients.

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Hypogammaglobulinemia and Common Variable Immunodeficiency

Cited by 7 publications

References 122 publications

High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

Disturbed canonical nuclear factor of κ light chain signaling in B cells of patients with common variable immunodeficiency

Pulmonary complications of predominantly antibody immunodeficiencies in a tertiary lung center

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