Selective IgA Deficiency and Pi ZZ-Antitrypsin Deficiency

Casterline, Charlotte L.; Evans, Richard; Battista, Virginia C.; Talamo, Richard C.

doi:10.1378/chest.73.6.885

Cited by 14 publications

(5 citation statements)

References 5 publications

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“…The case we have described presents several analogies with cases which have previously been reported in literature [3,7,11,19,23 , which had also been observed in the preleukemic phase. All patients had marked enlargement of the spleen, liver and/or lymphnodes.…”

Section: Discussionsupporting

confidence: 84%

“…Furthermore, we investigated serum AAT-levels in a total of 411 consecutive children with asthma, among whom were several with selective IgA deficiency, and found none with AAT deficiency. Casterline et al (1978) studied the interrelationship of IgA and AAT. Casterline et al (1978) studied the interrelationship of IgA and AAT.…”

Section: Discussionmentioning

confidence: 99%

“…Casterline et al (1978), discussing adult patients, drew attention to a possible connection between combined IgA and alpha-l-antitrypsin (AAT) deficiency and the development of bronchiectasis in such patients. Casterline et al (1978), discussing adult patients, drew attention to a possible connection between combined IgA and alpha-l-antitrypsin (AAT) deficiency and the development of bronchiectasis in such patients.…”

Section: Introductionmentioning

confidence: 99%

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Combined IgA and alpha-1-antitrypsin deficiency in a boy with severe respiratory tract infections and asthma

Østergaard

1982

Eur J Pediatr

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Combined IgA and alpha-1-antitrypsin deficiency in a boy with severe respiratory tract infections and asthma

Østergaard

1982

Eur J Pediatr

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“…One study reported on AAT allele frequencies in a cohort of CVID Canadian Respiratory Journal patients [24]. In addition, there are only four case reports describing AATD coexisting with hypogammaglobulinemia [19][20][21][22][23]. Against this background, our case series is the largest and first to describe AATD in a cohort of PID patients including two patients with a homozygous AATD coexisting with PID.…”

Section: Prevalence Of Aatd and Pidmentioning

confidence: 78%

Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience

Evers

Schulze

Thrull

et al. 2020

Canadian Respiratory Journal

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Background. Alpha-1 antitrypsin deficiency (AATD) is of importance in the pathogenesis of pulmonary emphysema, chronic obstructive pulmonary diseases (COPD), and bronchiectasis. Various pulmonary disorders are a typical feature of primary immunodeficiency disease (PID). This includes recurrent pulmonary infections, immunodysregulation, and autoinflammatory diseases. As a result, incidence of acute and chronic pulmonary diseases is higher. Interestingly, pulmonary morbidity in PID and AATD share similar features. To study the coexistence of AATD in patients suffering from PID, we performed the underlying investigation. Methods. We evaluated a study group of 149 patients (n = 149) with PID. In total, serum AAT concentrations were available for 110 patients (n = 110). For the identified patients, we analyzed both clinical associations and interactions. Results. Among the investigated patients, reduced serum AAT levels were detected in 7 patients. With regard to the genotype, PI∗ZZ was found in 2 patients, whereas PI∗MZ was observed in 5 patients. Independent of the underlying phenotype, obstructive lung diseases were found in 2 patients with PI∗ZZ and 2 patients with PI∗MZ. Conclusions. In Germany, the estimated percentage for PI∗ZZ and PI∗MZ is 0.01% and 1.9%, respectively. As demonstrated, the ratio in our study group was even higher. We identified seven patients with AATD. Since AATD contributes to pulmonary morbidity in PID patients, systematic underdiagnosis of the coexistence might yield a strong clinical impact. Hence, AAT analysis should be offered to all patients with confirmed PID diagnoses. To strengthen this finding, we suggest the investigation of larger databases.

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Section: Prevalence Of Aatd and Pidmentioning

confidence: 82%

Alpha-1 antitrypsin deficiency and pulmonary morbidity in patients with primary immunodeficiency disease: A single center experience

Evers

Schulze

Thrull

et al. 2018

Allergy and Immunology

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Background. Alpha-1 antitrypsin deficiency (AATD) is of importance in the pathogenesis of pulmonary emphysema, chronic obstructive pulmonary diseases (COPD), and bronchiectasis. Various pulmonary disorders are a typical feature of primary immunodeficiency disease (PID). is includes recurrent pulmonary infections, immunodysregulation, and autoinflammatory diseases. As a result, incidence of acute and chronic pulmonary diseases is higher. Interestingly, pulmonary morbidity in PID and AATD share similar features. To study the coexistence of AATD in patients suffering from PID, we performed the underlying investigation. Methods. We evaluated a study group of 149 patients (n � 149) with PID. In total, serum AAT concentrations were available for 110 patients (n � 110). For the identified patients, we analyzed both clinical associations and interactions. Results. Among the investigated patients, reduced serum AAT levels were detected in 7 patients. With regard to the genotype, PI * ZZ was found in 2 patients, whereas PI * MZ was observed in 5 patients. Independent of the underlying phenotype, obstructive lung diseases were found in 2 patients with PI * ZZ and 2 patients with PI * MZ. Conclusions. In Germany, the estimated percentage for PI * ZZ and PI * MZ is 0.01% and 1.9%, respectively. As demonstrated, the ratio in our study group was even higher. We identified seven patients with AATD. Since AATD contributes to pulmonary morbidity in PID patients, systematic underdiagnosis of the coexistence might yield a strong clinical impact. Hence, AAT analysis should be offered to all patients with confirmed PID diagnoses. To strengthen this finding, we suggest the investigation of larger databases.

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Selective IgA Deficiency and Pi ZZ-Antitrypsin Deficiency

Cited by 14 publications

References 5 publications

Combined IgA and alpha-1-antitrypsin deficiency in a boy with severe respiratory tract infections and asthma

Combined IgA and alpha-1-antitrypsin deficiency in a boy with severe respiratory tract infections and asthma

Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience

Alpha-1 antitrypsin deficiency and pulmonary morbidity in patients with primary immunodeficiency disease: A single center experience

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