Association of kyphomelic dysplasia with severe combined immunodeficiency

Abstract

Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs, narrow thorax, and metaphyseal abnormalities. While immune deficiency occurs in other short stature/short-limb skeletal dysplasias and cartilage-hair hypoplasia, it has not been described with kyphomelic dysplasia. We report on an infant with this disorder who had profound humoral and cellular immunologic abnormalities consistent with severe combined immune deficiency (SCID). The infant died at age 2 months of overwhelming cytomegalovirus pneumonia. Kyphomelic dysplasia, as with other short stature/short-limb skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is identified.

Congenic Mice Confirm That Collagen X Is Required for Proper Hematopoietic Development

“…Thus, it is plausible that changes in the well orchestrated events of EO that affect the hypertrophic chondrocyte-to-trabecular bone transition may likewise affect the unique marrow environment, leading to hematopoietic/immune disorders. Support can be found in human “immuno-osseous disorders” that link skeletal, hematopoietic and immune defects, and include: cartilage-hair hypoplasia (CHH), Kostmann's syndrome, Shwachman-Diamond syndrome, Schimke dysplasia, Fanconi anemia, Diamond-Blackfan anemia, Dubowitz, Omenn and Barth syndromes, kyphomelic dysplasia, spondylo-mesomelic-acrodysplasia, and adenosine deaminase deficiency [22], [23], [24], [25], [26], [27], [28], [29], [30], [31], [32], [33], [34], [35], [36]. For example, CHH patients, with mutations in the RNA component of the ribonucleoprotein complex RNase MRP, present with disproportionate short stature and deficient cellular immunity [28], [37], reminiscent of the collagen X murine metaphyseal dysplasia and hematopoietic defects.…”

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

“…Twenty-one cases have been reported in the literature. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] However the diagnosis in several cases from the literature has been disputed. The case described by Maclean and co-workers 10 was reported recently to have Schwartz-Jampel syndrome, 15 and the family reported by Toledo et al 5 in fact had osteogenesis imperfecta.…”

A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia

“…It is to be noted that in the case series described by Roifman and Melamed [2003] there was clear evidence of an autosomal recessive pattern of [McKusick et al, 1965;McLennan and Steinbach, 1974;Ratech et al, 1985;Hong, 1989;MacDermot et al, 1991;Santava et al, 1994;Corder et al, 1995;Ming et al, 1999;Roifman, 1999;Roifman and Costa, 2000;Hall, 2002] Immunodeficiency with epiphyseal dysplsia 1. inheritance. The exact mutation responsible for Roifman-Costa syndrome is not yet known, further genetic studies such as linkage analysis, conducted on families affected by this disorder, might help us to localize the gene responsible for this syndrome.…”