PMID- 32566054
OWN - NLM
STAT- MEDLINE
DCOM- 20210625
LR  - 20210625
IS  - 1916-7245 (Electronic)
IS  - 1198-2241 (Print)
IS  - 1198-2241 (Linking)
VI  - 2020
DP  - 2020
TI  - Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary 
      Immunodeficiency Disease: A Single-Center Experience.
PG  - 4019608
LID - 10.1155/2020/4019608 [doi]
LID - 4019608
AB  - 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.
CI  - Copyright (c) 2020 Georg Evers et al.
FAU - Evers, Georg
AU  - Evers G
AUID- ORCID: 0000-0003-3773-1416
AD  - Department of Medicine A, Hematology, Oncology and Pneumology, University 
      Hospital Muenster, Muenster, Germany.
FAU - Schulze, Arik Bernard
AU  - Schulze AB
AUID- ORCID: 0000-0002-1644-3573
AD  - Department of Medicine A, Hematology, Oncology and Pneumology, University 
      Hospital Muenster, Muenster, Germany.
FAU - Thrull, Michael
AU  - Thrull M
AD  - Department of Medicine A, Hematology, Oncology and Pneumology, University 
      Hospital Muenster, Muenster, Germany.
FAU - Hering, Jan-Philipp
AU  - Hering JP
AD  - Department of Clinical Radiology, University Hospital Muenster, Muenster, 
      Germany.
FAU - Schulke, Christoph
AU  - Schulke C
AD  - Department of Clinical Radiology, University Hospital Muenster, Muenster, 
      Germany.
FAU - Wiewrodt, Rainer
AU  - Wiewrodt R
AD  - Department of Medicine A, Hematology, Oncology and Pneumology, University 
      Hospital Muenster, Muenster, Germany.
FAU - Wittkowski, Helmut
AU  - Wittkowski H
AD  - Department of Pediatric Rheumatology and Immunology, University Hospital 
      Muenster, Muenster, Germany.
FAU - Schmidt, Lars Henning
AU  - Schmidt LH
AD  - Department of Medicine A, Hematology, Oncology and Pneumology, University 
      Hospital Muenster, Muenster, Germany.
FAU - Mohr, Michael
AU  - Mohr M
AD  - Department of Medicine A, Hematology, Oncology and Pneumology, University 
      Hospital Muenster, Muenster, Germany.
LA  - eng
PT  - Journal Article
DEP - 20200527
PL  - Egypt
TA  - Can Respir J
JT  - Canadian respiratory journal
JID - 9433332
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Bronchiectasis/diagnosis/etiology
MH  - Diagnostic Errors/prevention & control
MH  - Female
MH  - Genetic Association Studies
MH  - Germany/epidemiology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Primary Immunodeficiency Diseases/diagnosis/epidemiology/physiopathology
MH  - *Pulmonary Disease, Chronic Obstructive/epidemiology/immunology/physiopathology
MH  - Pulmonary Emphysema/diagnosis/etiology
MH  - Recurrence
MH  - *Respiratory Tract Infections/epidemiology/immunology
MH  - alpha 1-Antitrypsin/genetics
MH  - *alpha 1-Antitrypsin Deficiency/diagnosis/epidemiology/genetics/immunology
PMC - PMC7273390
COIS- The authors have no conflicts of interest to declare.
EDAT- 2020/06/23 06:00
MHDA- 2021/06/29 06:00
PMCR- 2020/05/27
CRDT- 2020/06/23 06:00
PHST- 2019/11/18 00:00 [received]
PHST- 2020/04/22 00:00 [revised]
PHST- 2020/05/06 00:00 [accepted]
PHST- 2020/06/23 06:00 [entrez]
PHST- 2020/06/23 06:00 [pubmed]
PHST- 2021/06/29 06:00 [medline]
PHST- 2020/05/27 00:00 [pmc-release]
AID - 10.1155/2020/4019608 [doi]
PST - epublish
SO  - Can Respir J. 2020 May 27;2020:4019608. doi: 10.1155/2020/4019608. eCollection 
      2020.