Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele.
Severe alpha-1 antitrypsin deficiency (AATD) is generally associated with PI*ZZ genotype and less often with combinations of PI*Z, PI*S, and other rarer deficiency or null (Q0) alleles. Severe AATD predisposes patients to various diseases, including pulmonary emphysema. Presented here is a case report of a young man with COPD and AATD. The investigation of the AATD showed a novel mutation p.Leu263Pro (c.860T>C), which was named Q0gaia (Pi*ZQ0gaia). Q0gaia is associated with very low or no detectable serum concentrations of AAT.
Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Portugal. Electronic address: maria.joaooliveira@chvng.min-saude.pt.
M J
MJ
Oliveira
Investigação e Inovação em Saúde (I3S), University of Porto, Portugal; Institute of Molecular Pathology and Immunology (IPATIMUP), University of Porto, Portugal.
S
S
Seixas
Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Portugal.
I
I
Ladeira
Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Portugal.
R
R
Monteiro
Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Portugal.
T
T
Shiang
Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Portugal.
M
M
Guimarães
Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Portugal.
R
R
Lima
Alpha-1 antitrypsin deficiency; COPD; Null allele