Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Invasive pneumococcal infection, defined as the combination of pneumonia with endocarditis and meningitis, was described as Austrian syndrome in the 1800s. We report the case of a 63-year-old woman with underlying human immunodeficiency virus who presented with fever and altered mental status. Subsequent workup supported a diagnosis of Austrian syndrome. During the 5-week course of ceftriaxone treatment, she developed fever, pruritus and follicular accentuation throughout the body. Labs were significant for eosinophilia, which along with systemic symptoms, supported the diagnosis of a drug reaction. Coagulase negative staphylococcus bacteremia was discovered when the patient developed septic shock. Subsequently, diffuse desquamative eruption with rapidly progressing sloughing appeared and biopsy proved toxic epidermal necrolysis. Patient eventually succumbed to multiorgan failure.
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PMID:Austrian syndrome followed by severe cutaneous adverse reactions in a HIV patient. 3307 Oct 38

Hyper IgE syndrome (HIES) is a medical condition that can be sporadic or hereditary. It consists of multiple overlapping primary immunodeficiency conditions and is characterized by a classical triad of high immunoglobulin E (IgE) levels, recurrent pneumonia with pneumatocele and recurrent cold skin abscesses from staphylococcus infections. Eosinophilia is also common in HIES patients. HIES is often underdiagnosed in Syria as it cannot be confirmed without genetic testing, which is unavailable across Syria for HIES. We present the first case from Syria of a suspected child with HIES that has some additional distinct features. Other cases in a regional country carried atypical novel mutations, which may indicate that these mutations may exist in Syria as well. However, our case had findings that were not reported with other HIES cases. Determining these genes in the case presented was not possible, and future studies need to overcome this hurdle.
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PMID:Hyper IgE syndrome (Job syndrome) in Syria: a case report. 3326 88


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