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)

The authors report the case of a child who, at the age of 18 months showed signs of hypoparathyroidism together with gastrointestinal, then buccal, then ungual candidiasis. Acute adrenal failure occurred when he was 5 1/2 years' old. At the age of 10, the patient developed alopecia areata and interstitial keratitis. Immunological investigations yielded normal results, except that serum was weakly positive for anti-adrenal antibodies at 1/10th. The mucosal and ungual candidiasis infection was cured by ketoconazole, and the various endocrine abnormalities were corrected with the appropriate replacement therapies. This case prompted the authors to review the candidiasis/"polyglandular autoimmune disease" association. Whitaker's triad consists of candidiasis, hypoparathyroidism and chronic renal failure, 2 or these 3 elements being sufficient to make the diagnosis. Numerous other associations have been described; they are presented here in table form in descending order of frequency, with candidiasis/hypoparathyroidism coming on top of the list (70 p. 100). The fairly constant chronological order in which these different pathologies appear is one of the peculiarities of the syndrome: candidiasis often precedes hypoparathyroidism and adrenal insufficiency. Alopecia areata does not seem to be frequent, but its true incidence is difficult to quantify since lesions of the scalp and/or skin appendages are poorly documented in the literature. Alopecia and keratopathy seem to be of autoimmune origin. Mucocutaneous candidiasis too is specific, the mucosae and nails being constantly involved. This type of candidiasis does not exist in other forms of hypoparathyroidism. Chronic mucocutaneous candidiasis is found in many different diseases and is due to immunodeficiency against Candida spp.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Autoimmune polyendocrinopathy and chronic mucocutaneous candidiasis]. 266 Jul 6

Syphilis is a sexually transmitted, chronic, systemic infection caused by the spirochete Treponema pallidum. If left untreated, the disease progresses through four stages, with the potential to cause significant morbidity to any major organ of the body. Frequent syphilitic ocular manifestations, which can occur at any stage of the disease, include interstitial keratitis, anterior, intermediate, and posterior uveitis, chorioretinitis, retinitis, retinal vasculitis and cranial nerve and optic neuropathies. Diagnosis is centered around a high level of clinical suspicion and includes treponemal specific and non-treponemal serologic tests. All patients with newly diagnosed syphilis should be tested for co-infection with human immunodeficiency virus, as the risk factors are similar for both diseases. Additionally, all patients with ocular syphilis should be tested for neurosyphilis. The preferred treatment for all stages of syphilis remains parenteral penicillin G. With proper diagnosis and prompt antibiotic treatment, the majority of cases of syphilis can result in a cure.
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PMID:Ocular manifestations and treatment of syphilis. 1628 50

There has been a dramatic increase in the incidence of syphilis over the last five years in the world. Some of the syphilitic patients have ocular uveitis as the initial presentation of syphilis, which may be misdiagnosed and can lead to a delay of treatment. Multiple manifestations of ocular syphilis include interstitial keratitis; anterior, intermediate, posterior uveitis and optic neuropathies. Uveitis, which may involve unilateral or bilateral eyes, is the most common ocular manifestation of syphilis. The serologic tests for syphilis should be considered for unexplained uveitis patients. All patients diagnosed with ocular syphilis should be tested for co-infection with human immunodeficiency virus. The preferred treatment for ocular syphilis remains high dose intravenous penicillin G.
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PMID:[To pay attention to syphilitic uveitis]. 1917 11

Human immunodeficiency virus (HIV) causes impairment to the human immune system which leads to immunocompromised conditions, including ocular complications. Several important HIV-associated disorders may involve the anterior segment, ocular surface, and adnexae organ such as dry eye, blepharitis which reduce quality of life of patients. In present, potent antiretroviral therapies HAART (highly active antiretroviral therapy) has improved the length and quality of life which may lead to an increased prevalence of anterior segment ocular disorders. Hence, this study has been undertaken to identify the prevalence and associated factors of anterior segment and external ocular disorder in HIV infected patients in the era of HAART. A prospective descriptive cross sectional study was carried out in HIV positive patients conducted at the Department of Ophthalmology, Chiang Mai University Hospital, from February 2014 to October 2015. Detail history and ocular examination was carried out to examine for anterior segment and external ocular disorders. A total number of 363 patients were included for this prospective cross-sectional study. From the total of 363 patients, 123 patients had an anterior segment and external ocular disorder which account as the prevalence of 33.9%. The most common anterior segment manifestations was dry eye seen in 36 patients (9.9%), followed by posterior blepharitis (Meibomian gland dysfunction) seen in 23 patients (6.3%) and anterior blepharitis seen in 12 patients (3.3%). Other ocular complications included microvasculopathy, immune recovery uveitis, conjunctivitis, papilloma, anterior uveitis, corneal ulcer, nevus, trichiasis, molluscum contangiosum, Kaposi sarcoma, interstitial keratitis, conjunctival lymphangiectasia, dacryocystitis, vernal keratoconjunctivitis and eyelid penicilosis. In this study, the prevalance of anterior segment disorders was higher than in the preHAART era. Dry eye, blepharitis and uveitis were the top three most common anterior segment disorders in the HAART era. The statistical analysis showed no association between age, sex, CD4 count, duration of infection or receiving HAART and anterior segment disorders. Anterior segment abnormalities reduce the quality of life of patients, so ophthalmologists have to be aware and complete ocular examination should be performed in all HIV infected patients.
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PMID:Anterior segment and external ocular disorders associated with HIV infections in the era of HAART in Chiang Mai University Hospital, a prospective descriptive cross sectional study. 2946 24