Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.5.4.4 (
adenosine deaminase
)
5,136
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The hematologic and histologic features of two, nontwin, male siblings with severe combined immunodeficiency and variable granulocytopenia are compared to the four previously reported cases of
reticular dysgenesis
. These sibs died at 50 and 3 days of age, respectively, with Pseudomonas sepsis and congenital cytomegalovirus infection, respectively. A maternal uncle has selective IgA deficiency. Cord blood from the second sib contained a normal percentage of E-rosetting lymphocytes; however, these lymphocytes failed to respond to mitogenic stimulation in vitro. Erythrocyte and lymphocyte levels of
adenosine deaminase
were elevated in the father and the second sib. Serum immunoglobulin concentrations were low in both siblings.
...
PMID:Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings. 95 62
