Literature DB >> 9350822

Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.

A Castriota-Scanderbeg1, R Mingarelli, G Caramia, P Osimani, R S Lachman, D L Rimoin, W R Wilcox, B Dallapiccola.   

Abstract

A newborn girl is described with an association of spondylo-acrodysplasia, mild short limbed dwarfism without significant metaphyseal changes, joint dislocations, and severe immune system dysfunction. This association is distinct from other known immuno-osseous dysplasias, including Schimke dysplasia, ADA deficiency with osseous changes, and Omenn phenotype with short limbed dwarfism.

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Year:  1997        PMID： 9350822      PMCID： PMC1051096          DOI： 10.1136/jmg.34.10.854

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  FAMILIAL RETICULOENDOTHELIOSIS WITH EOSINOPHILIA.

Authors:  G S OMENN
Journal:  N Engl J Med       Date:  1965-08-19       Impact factor: 91.245

2.  Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

Authors:  J Spranger; G K Hinkel; H Stöss; W Thoenes; D Wargowski; F Zepp
Journal:  J Pediatr       Date:  1991-07       Impact factor: 4.406

3.  Omenn phenotype with short-limbed dwarfism.

Authors:  O Schofer; I Blaha; W Mannhardt; F Zepp; T Stallmach; J Spranger
Journal:  J Pediatr       Date:  1991-01       Impact factor: 4.406

Review 4.  Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.

Authors:  K D MacDermot; R M Winter; J S Wigglesworth; S Strobel
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

5.  Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.

Authors:  R N Schimke; W A Horton; C R King; N L Martin
Journal:  Birth Defects Orig Artic Ser       Date:  1974

6.  Antibody-mediated immunodeficiency in short-limbed dwarfism.

Authors:  A J Ammann; W Sutliff; E Millinchick
Journal:  J Pediatr       Date:  1974-02       Impact factor: 4.406

7.  Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.

Authors:  R A Gatti; N Platt; H H Pomerance; R Hong; L O Langer; H E Kay; R A Good
Journal:  J Pediatr       Date:  1969-10       Impact factor: 4.406

8.  Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973.

Authors:  H J Meuwissen; B Pollara; R J Pickering
Journal:  J Pediatr       Date:  1975-02       Impact factor: 4.406

9.  The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency.

Authors:  S D Cederbaum; I Kaitila; D L Rimoin; E R Stiehm
Journal:  J Pediatr       Date:  1976-11       Impact factor: 4.406

10.  Restoration of in-vitro lymphocyte responses with exogenous adenosine deaminase in a patient with severe combined immunodeficiency.

Authors:  S H Polmar; E M Wetzler; R C Stern; R Hirschhorn
Journal:  Lancet       Date:  1975-10-18       Impact factor: 79.321
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  6 in total

1.  Congenic mice confirm that collagen X is required for proper hematopoietic development.

Authors:  Elizabeth Sweeney; Douglas Roberts; Tina Corbo; Olena Jacenko
Journal:  PLoS One       Date:  2010-03-03       Impact factor: 3.240

2.  A dominant interference collagen X mutation disrupts hypertrophic chondrocyte pericellular matrix and glycosaminoglycan and proteoglycan distribution in transgenic mice.

Authors:  O Jacenko; D Chan; A Franklin; S Ito; C B Underhill; J F Bateman; M R Campbell
Journal:  Am J Pathol       Date:  2001-12       Impact factor: 4.307

3.  Altered endochondral ossification in collagen X mouse models leads to impaired immune responses.

Authors:  E Sweeney; M Campbell; K Watkins; C A Hunter; O Jacenko
Journal:  Dev Dyn       Date:  2008-10       Impact factor: 3.780

4.  Linking hematopoiesis to endochondral skeletogenesis through analysis of mice transgenic for collagen X.

Authors:  Olena Jacenko; Douglas W Roberts; Michelle R Campbell; Patricia M McManus; Catherine J Gress; Zhuliang Tao
Journal:  Am J Pathol       Date:  2002-06       Impact factor: 4.307

5.  Chicken collagen X regulatory sequences restrict transgene expression to hypertrophic cartilage in mice.

Authors:  Michelle R Campbell; Catherine J Gress; Elizabeth H Appleman; Olena Jacenko
Journal:  Am J Pathol       Date:  2004-02       Impact factor: 4.307

6.  EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Authors:  Stefano Volpi; Yasuhiro Yamazaki; Patrick M Brauer; Ellen van Rooijen; Atsuko Hayashida; Anne Slavotinek; Hye Sun Kuehn; Maja Di Rocco; Carlo Rivolta; Ileana Bortolomai; Likun Du; Kerstin Felgentreff; Lisa Ott de Bruin; Kazutaka Hayashida; George Freedman; Genni Enza Marcovecchio; Kelly Capuder; Prisni Rath; Nicole Luche; Elliott J Hagedorn; Antonella Buoncompagni; Beryl Royer-Bertrand; Silvia Giliani; Pietro Luigi Poliani; Luisa Imberti; Kerry Dobbs; Fabienne E Poulain; Alberto Martini; John Manis; Robert J Linhardt; Marita Bosticardo; Sergio Damian Rosenzweig; Hane Lee; Jennifer M Puck; Juan Carlos Zúñiga-Pflücker; Leonard Zon; Pyong Woo Park; Andrea Superti-Furga; Luigi D Notarangelo
Journal:  J Exp Med       Date:  2017-02-01       Impact factor: 14.307
  6 in total

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