Alpha-chain disease without qualitative serum IgA abnormality. Report of two cases, including a "nonsecretory" form.

Two cases of alpha-chain disease (alpha-CD) without detectable amounts of alpha-CD protein in serum are reported. Both patients presented with the usual epidemiologic, clinical and pathologic features of alpha-CD, including a predominantly plasmacytic infiltration of the whole small intestine, alpha-CD Protein was found in the jejunal fluid in one case but not in the other, the latter presenting as a "nonsecretory" form of alpha-CD. In both cases, immunofluorescence study of the small bowel mucosa showed that most of the infiltrating cells were positive for alpha chains and negative for other isotypes, and kappa and lambda light chains. These findings warrant a reevaluation of the prevalence of alpha-CD protein synthesis in immunoproliferative small intestinal disease (IPSID) (including lymphomas previously described as Mediterranean lymphoma) by performing an adequate search for alpha-CD protein in the jejunal juice, and at the cellular level in patients without detectable amounts of this protein in serum.

[Familial Creutzfeldt-Jakob disease. A clinical and pathological study of three cases in a family with eight affected members in three generations (author's transl)]. / Maladie de Creutzfeldt-Jakob familiale. Etude clinique et anatomique de trois cas sur huit répartis sur trois générations. Transmission au singe écureuil.

We report here a family with three pathologically confirmed cases of Creutzfeldt-Jakob disease in three siblings and with transmission of one case to the squirrel monkey. This family, originating from the South-East of England, settled in France in 1870. Eight members of the family, distributed in three generations, were affected by the disease at the same age (about 50), with similar symptoms and length of evolution. Two cases were confirmed at post-mortem and one case by cerebral biopsy. The genealogic inquiry dealth with 46 members of 5 generations. All the affected members, six men and two women, belonged to the three older generations which were comprised of 15 individuals. All had lived in close relationship in a limited area of the north of Ardennas. The possible mechanisms of dominant inheritance or cross infection are discussed.