Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping

Article Abstract:

A gene for familial hemophagocytic lymphohistiocytosis (FHL), familial histiocytic reticulosis, and familial erythrophagocytic lymphohistiocytosis, has been localized at chromosome 9q21.3-22 using homozygosity mapping in four inbred families of Pakistani descent. The combined maximum multipoint LOD score was 6.05. Homozygosity across the interval could not be found in another affected kindred, one of Arab origin with a maximum multipoint LOD score of -0.12. Identification of the genes will be helpful to the effort to understand control of macrophage and T-lymphocyte activation. FHL is a rare early-childhood autosomal recessive disorder and involves excessive immune activation.

Pediatric diseases, Immunologic diseases, Immunologic diseases in children

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Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease

Article Abstract:

Familial calcium pyrophosphate dihydrate deposition disease (CPPDD) has been documented in a French kindred from the Alsace region and in an Argentinean kindred of northern Italian ancestry. Family members who were affected were karyotypically normal. Linkage was found to the short arm of chromosome 5. In the Argentinean group, recombinants made it possible to designate a region less than 1 cM in length between D5S416 and D5S2114 as the CPPDD locus.

France, Argentina, Chondrocalcinosis

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