Title :

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.

Author(s) :

Jouhadi, Zineb [Auteur]
Odou, Marie-Francoise [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Zerimech, Farid [Auteur]
Impact de l'environnement chimique sur la santé humaine - ULR 4483 [IMPECS]
Bousfiha Ahmed, Aziz [Auteur]
Mikou, Nabiha [Auteur]
Porchet, Nicole [Auteur]
Crepin, Michel [Auteur]
Najib, Jilali [Auteur]
Balduyck, Malika [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Journal title :

Respiratory Medicine Case Reports

Abbreviated title :

Respir Med Case Rep

Volume number :

24

Pages :

58-62

Publication date :

2018

Keyword(s) :

Bronchiectasis
Alpha-1 antitrypsin deficiency
Null mutation
Panniculitis
SERPINA1 genotyping

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease ...
Show more >Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here we report a very rare alpha-1 antitrypsin Null Q0cairo homozygous mutation characterized by a complete absence of alpha-1 antitrypsin in the plasma, in a non-consanguineous Moroccan family. This mutation has been previously described in heterozygosis in only three cases worldwide: an Italian/Egyptian family and two Italian families (Zorzetto et al., 2005). The main clinical features in two members of this Moroccan family were the severity and precocity of bronchiectasis, quickly spreading and seriously limiting respiratory function and physical activity by the second decade of age. Moreover, the index case presented with many episodes of pulmonary infections concomitant with severe neutropenia. The third member of the family presented with ankylosing spondyloarthritis and developed panniculitis later but had no respiratory symptoms. The presence of this alpha-1-antitrypsin Q0cairo homozygous mutation could explain the severity of clinical manifestations. Moreover, our observations highlight a great variability of clinical expression for the same mutation: early severe bronchiectasis, panniculitis, rheumatologic manifestations. This study further underlines the importance of genotyping by whole SERPINA1 gene sequencing in addition to serum alpha-1 antitrypsin determination, to enable detection of alpha-1 antitrypsin deficiency due to rare genotypes.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Inserm
Université de Lille
CHU Lille

Collections :

• IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483
• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Research team(s) :

Inflammatory digestive disease : pathophysiology and therapeutic targets developement

Submission date :

2019-03-01T14:34:38Z
2021-06-28T12:54:21Z
2024-03-05T08:51:51Z