sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay — Definition

B-hücre immün yetmezliği, periyodik ateşler ve gelişimsel gecikme ile birlikte sideroblastik anemi; this rare genetic disease is characterized by the accumulation of sideroblasts in the form of a ring in the bone marrow, sideroblastic anemia, repetitive fire attacks, immuno insufficiency and delay in motor or cognitive development due to the deficiency of B cells. Usually TRNT1 is caused by mutations in the gene and is associated with mitochondrial dysfunction. Clinical findings include microcytic anemia, predisposition to infections, periodic febril epizodlar and neurocommunication problems.

The Turkish equivalent of "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" is B-hücre immün yetmezliği, periyodik ateşler ve gelişimsel gecikme ile birlikte sideroblastik anemi.

This term belongs to the Diseases category.