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A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia
Author(s) -
Roifman CM,
Melamed I
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00033.x
Subject(s) - autoimmunity , immune system , immune dysregulation , short stature , immunology , immunodeficiency , immunologic deficiency syndromes , dysplasia , medicine , immunopathology , immunodeficiency syndrome , pediatrics , pathology
We describe here four patients who appear to have similar clinical and immunological features which constitute a novel syndrome. The patients present with short stature owing to spondylometaphyseal dysplasia and with severe infections as the result of a combined humoral and cellular immune deficiency. Presumably because of dysregulation of the immune system, all patients also developed autoimmune manifestations.