Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Immunodeficiency functionally limited to the B-cell system together with mild hypothyroidism and severe growth hormone deficiency was found in a 6 1/2-month-old female infant with recurrent infections and growth retardation. A lymph node biopsy and post mortem examination of the lymphoid organs surprisingly revealed severe deficiency of both thymus-dependent and bursa-equivalent systems. The unusual combination of immune and endocrine deficiencies posed a difficult diagnostic problem. The hypothesis of an early-onset Louis-Bar syndrome was suggested and apparently corroborated by the autopsy findings of ovarian dysgenesis and cerebellar degeneration. The dissociation between functional and morphological findings as regards the immunodeficiency, and the possible links between immune and endocrine derangements are discussed.
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PMID:Unusual combination of immune and endocrine deficiencies. A possible case of early-onset Louis-Bar syndrome. 108 26