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GM04258 male affected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample

Identifiers
BioSample: SAMN00795155; Coriell: GM04258; Coriell: NA04258
Organism
Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Attributes
cell lineGM04258
sexMale
cell typeB-Lymphocyte
family id694
family roleproband
raceBlack
age4 YR
DNA-IDNA04258
GeneADA
affected_byT cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency
MutationALA329VAL
MutationSER291LEU
collectionNIGMS Human Genetic Cell Repository
Tags
T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency
Severe combined immunodeficiency autosomal recessive
ADA
Adenosine deaminase
Description

Clinically affected;admitted to hospital at age 4 months with pneumonia;a history of recurrent infections;and failure to thrive;severe combined immunodeficiency was diagnosed based on lymphopenia;decreased immunoglobins;and minimal response of peripheral lymphocytes to mitogens and allogenic cells;at age 4 months;prior to blood transfusions;only trace amounts of adenosine deaminase activity were present in erythrocytes and activity was greatly decreased in lymphocytes and granulocytes;concentrations of dATP and dADP were over 100-fold higher than normal in lymphocytes and erythrocytes;excretion of deoxyadenosine was increased in the urine;no thymic shadow seen on chest x-ray;incompetent humoral and cellular immunity;both parents have heterozygous ADA levels;at age 2.5 years subject was free of infection;at the 10th percentile for height and weight;and had normal psychomotor development;produces normal ADA mRNA;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 1081 in exon 11 of the ADA gene 1081C>T resulting in a substitution of valine for alanine at codon 329 Ala329Val(A329V) and a second allele has a C>T transition at nucleotide 872 in exon 10 of the ADA gene 872C>T resulting in a substitution of leucine for serine at codon 291 Ser291Leu (S291L) .

Submission
Coriell; 2012-03-05
Accession:
SAMN00795155
ID:
795155

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