Created by: pmss1990
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This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation.
Autosomal recessive disorder. Both parents need to pass the defective gene to their child in order for that child to inherit the deficiency.
A lymphophenic form of congenital immunologic deficiency and thymic hypoplasia which was first described by Glanzmann and Riniker in 1950. Subsequent detailed clinical, pathologic, and immunologic ...
A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome.
X-linked diseases are single gene disorders that reflect the presence of defective genes on the X chromosome. This chromosome is present as two copies in females but only as one copy in males.
Any of a group of naturally occurring proteins that mediate communication between cells. Interleukins regulate cell growth, differentiation, and mobility. They are particularly important in ...
Hemoglobin-containing blood cell that transports oxygen from the lungs to tissues. In the tissues, the red blood cell exchanges its oxygen for carbon dioxide, which is brought back to the lungs to be ...
