Biomaterial Database

Homozygous alpha1 antitrypsin deficiency with unusual associations: a case report. 1978

R C Young, and V E Headings, and S Bose, and R L Hackney

The rare association of protease inhibitor deficiency (Pi(zz) genotype) in a black American with chronic, obstructive pulmonary disease due to asthmatic bronchitis, rather than basal pan lobular emphysema, is presented. The late onset of symptoms, despite environmental exposures, is also unusual in this homozygote, as is his ethnic background.

UI	MeSH Term	Description	Entries
D008173	Lung Diseases, Obstructive	Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent.	Obstructive Lung Diseases,Obstructive Pulmonary Diseases,Lung Disease, Obstructive,Obstructive Lung Disease,Obstructive Pulmonary Disease,Pulmonary Disease, Obstructive,Pulmonary Diseases, Obstructive
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D001741	Black or African American	A person having origins in any of the black racial groups of Africa (https://www.federalregister.gov/documents/1997/10/30/97-28653/revisions-to-the-standards-for-the classification-of-federal-data-on-race-and-ethnicity). In the United States it is used for classification of federal government data on race and ethnicity. Race and ethnicity terms are self-identified social construct and may include terms outdated and offensive in MeSH to assist users who are interested in retrieving comprehensive search results for studies such as in longitudinal studies.	African American,African Americans,African-American,Afro-American,Afro-Americans,Black Americans,Blacks,Negroes,African-Americans,Negro,Afro American,Afro Americans,American, African,American, Black,Black American
D001991	Bronchitis	Inflammation of the large airways in the lung including any part of the BRONCHI, from the PRIMARY BRONCHI to the TERTIARY BRONCHI.	Bronchitides
D006720	Homozygote	An individual in which both alleles at a given locus are identical.	Homozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014481	United States	A country in NORTH AMERICA between CANADA and MEXICO.
D019896	alpha 1-Antitrypsin Deficiency	Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.	Deficiencies, alpha 1-Antitrypsin,Deficiency, alpha 1-Antitrypsin,alpha 1 Antitrypsin Deficiency,alpha 1-Antitrypsin Deficiencies