Intrinsic factor and binder, combined congenital deficiency of
胃液 / 血清 / 唾液 / 多核球のR 結合因子の欠損
In the 14.5-year-old son of a first-cousin Algerian couple, Zittoun ら(1988) identified deficiency of both intrinsic factor and R binder. Separate deficiencies are well described (see 261000 and 193090, respectively). The boy presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord. The anemia responded completely to cyanocobalamin and folic acid. Intrinsic factor was absent from gastric juice, but acid secretion and gastric mucosa were normal. R binders were absent from gastric juice as well as from serum, saliva, and polymorphonuclear leukocytes.
Zittoun J et al. Combined congenital deficiencies of intrinsic factor and R binder. Blood 72: 940-943, 1988