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Adenosine Demaminase Deficiency
Adenosine Deaminase Deficiency (ADA) - Patients can develop a number of skeletal abnormalities including flaring of the anterior rib ends (best visualized on a lateral CXR), prominent costochondral junctions (rachitic rosary), pelvic dysplasia, squared off inferior scapula, or flattened vertebral bodies (platyspondyly).
DIRA - Patients can develop bony abnormalities including rib widening, multi-focal osteolytic lesions, periosteal elevation, and periosteal cloaking. Other clinical features include markedly elevated inflammatory markers and cutaneous pustulosis. Patients typically do not develop episodic fevers.
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