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

Acquired human immunodeficiency virus (HIV) infection in a 10-year-old child, presenting with monoparesis, progressing to triplegia over 4 weeks is an extremely rare feature. The child had left upper motor neurone facial palsy with left hemiplegia, paralyzed right lower limb, grade zero power, exaggerated deep tendon reflexes and bilateral extensor plantars. Child tested positive for HIV by ELISA. CD3(+) absolute count was 431. CD3(+) CD4 count was 28, and CD45 absolute count was 478. Magnetic resonance imaging of brain and spine showed multiple ill-defined foci of hyperintensity in white matter suggestive of ADEM. Acute demyelinating encephalomyelitis (ADEM) is an extremely rare presenting feature of perinatally acquired HIV infection in paediatrics. Clinically child remained same even with methylprednisolone, intravenous immunoglobulin, antituberculosis therapy, trimethoprim-sulfamethoxazole prophylaxis and supportive therapy. Child had sudden clinical deterioration and death before antiretroviral therapy could be initiated. This case emphasizes that pediatricians and neurophysicians should suspect HIV as an etiology of ADEM in cases with atypical clinical presentation and social risk factors, in spite of its very rare occurrence.
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PMID:Acute disseminated encephalomyelitis: Extremely rare presentation of pediatric human immunodeficiency virus infection. 2525 73

The hyper-immunoglobulin E (IgE) syndrome (HIES), also known as Job's syndrome is a rare primary immunodeficiency characterized by the clinical triad of recurrent staphylococcal abscesses of skin, recurrent cyst-forming pneumonia, and an elevated serum IgE level of > 2000 IU/ml. Although, most cases are sporadic, families with autosomal dominant (AD-HIES) and recessive (AR-HIES) traits have been reported. Very few articles were published previously on central nervous system abnormalities with definite neurologic manifestations which may vary from partial facial nerve paralysis to hemiplegia in children but Acute Disseminated Encephalomyelitis (ADEM) in a child with HIES hitherto has not been reported. Here we describe a 5-year-old male child with HIES who presented with neurologic manifestations of ADEM.
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PMID:Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. 2551 94

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan.
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PMID:X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan. 2830 4

This case report presents the clinical record of a 37-year-old man who presented with a dense right hemiplegia, found to be caused by a left medial medullary stroke. The cause of the stroke was unclear, and bacterial endocarditis was initially suspected. However, he was ultimately found to have neurosyphilis on a background of undiagnosed human immunodeficiency virus and was treated with benzylpenicillin. This case report reviews the diagnosis of neurosyphilis and highlights the importance of considering neurosyphilis as a rare but important cause of stroke, especially given the increasing prevalence of syphilis in Australia.
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PMID:Medial medullary stroke due to neurosyphilis in a newly diagnosed HIV-positive man. 3013 89


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