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Schimke Immuno-Osseous Dysplasia
Patients have a broad nasal bridge and bulbous nasal tip. Other features of this disease include IUGR, short stature, spondyloepiphyseal dysplasia, and progressive renal failure. The immunodeficiency is characterized by T cell lymphopenia, reduced mitogen proliferation, normal B cell numbers, and reduced immunoglobulin levels (variable).
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