Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06126 (CD1a)
 2,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Macrophagic myofasciitis (MMF) is a rare, seemingly emerging entity among adult patients in France. We encountered two children with the first two cases of MMF in North America. A 5-year-old male with chronic intestinal pseudo-obstruction required nighttime parenteral nutrition. Abnormal pupillary reflexes and urinary retention suggested a diffuse dysautonomia, which prompted a neurological diagnostic work-up. A 3-year-old child had developmental delay and hypotonia. Both children received age-appropriate immunizations. Quadriceps muscle biopsy from each child showed the typical patchy, cohesive centripetal infiltration of alpha-1-antitrypsin+, alpha-1-antichymotrypsin+, CD68+, PAS+, CD1a-, S-100-, factor XIII- granular macrophages with adjacent myofiber atrophy, dilated blood vessels, and mild endomysial and perimysial fibrosis. No myonecrosis was observed and no discrete granulomas were seen. A single aluminum peak was demonstrated on energy dispersive X-ray microanalysis. The etiology of the clinical symptoms in these cases and in cases reported as MMF remains intriguing. Despite numerous stains to demonstrate organisms, most infectious causes leading to macrophage activation were ruled out. These cases are being reported to increase awareness of this condition and to encourage a systematic epidemiologic and clinicopathologic study in North America.
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PMID:Aluminum phagocytosis in quadriceps muscle following vaccination in children: relationship to macrophagic myofasciitis. 1191 May 9

Intracranial tuberculoma in infants are a rare occurrence. We report a 7-month-old male infant presenting to our tertiary care referral center with complaints of global developmental delay and right hemiparesis for 3 months. Radiologic imaging was suggestive of large left frontoinsular space-occupying lesion with initial differential of primitive neuroectodermal tumor or desmoplastic infantile ganglioglioma. Considering the clinicoradiologic findings and no history suggestive of immunodeficiency or contact with tuberculosis, surgical decompression was done. Final histopathology revealed multiple epithelioid granulomas suggestive of tubercular etiology or intracranial Langerhans cell histiocytosis. He was started on antitubercular therapy after ruling out Langerhans cell histiocytosis using CD1a and Langerin immunohistochemistry staining. Interpretation of tuberculous etiology in infants can be challenging for clinicians, radiologists, and pathologists. A high index of suspicion is necessary to diagnose such lesions, predominantly in endemic regions.
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PMID:A case of giant intracranial tuberculoma in an infant: clinical and radiologic pitfalls. 2483