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)

In order to increase the awareness of otolaryngologists of severe combined immunodeficiency syndrome (SCIDS) so they may contribute to an earlier diagnosis of this disorder, we performed a retrospective chart review of a multicenter series from 2 children's hospital medical centers. Eighteen cases were identified, and 14 had an otolaryngological presentation. The average age of presentation was 3.3 months, and 72% were males. Most cases were inherited in an X-linked fashion. Five patients had thrush; 4 had recurrent otitis media. Other otolaryngological presentations included cough, mouth ulcers, pharyngitis, mastoiditis, and bilateral neck abscess. The most severe form of immunodeficiency, SCIDS is a rare condition that involves a disorder in both T and B cell functions. The manifestations involving the head and neck include recurrent upper respiratory tract infections, otitis media, thrush, oral ulcers, and abscesses. It is important that SCIDS be considered in any infant with recurrences of these common infections.
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PMID:Severe combined immunodeficiency: otolaryngological presentation and management. 1021 90

A 32-year-old woman with common variable immunodeficiency (CVID) accompanied by sinopulmonary infection was evaluated for purulent sputum, cough, and nasal obstruction that did not respond to regular intravenous immunoglobin (IVIG) infusion. Chest X-ray films revealed bronchiectasis affecting both lung bases, and a bacteriological examination of sputum was positive for Pseudomonas aeruginosa. Long-term chemotherapy with erythromycin (EM) was started, and the patient's respiratory symptoms gradually subsided. Sinopulmonary infection is the dominant clinical complication in patients with CVID. This case suggested that long-term EM chemotherapy is useful for the treatment of IVIG-refractory sinopulmonary infection associated with CVID.
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PMID:[A case of common variable immunodeficiency that responded to long-term erythromycin chemotherapy]. 1054 Aug 36

There is no consensus regarding the specific management of HIV-associated nephrotic syndrome. We report a child whose first manifestation of human immunodeficiency virus type 1 (HIV-1) infection was nephropathy and wasting syndrome associated with profound immunodeficiency. The patient had a dramatic clinical and immunologic response to triple antiretroviral therapy delivered through a gastrostomy tube, with complete resolution of nephrotic syndrome. A 51/2-year-old African-American girl presented with a 2-week history of cough, chest pain, vomiting, loose stools, abdominal distention, anorexia, and fever. In addition, she had recurrent oral thrush. Her weight and height were below the 5th percentile. She was chronically ill, appearing with oropharyngeal thrush and pitting edema in lower extremities. She had scattered rhonchi and decreased breath sounds on both lung bases. Her abdomen was distended and diffusely tender. A chest radiograph showed consolidation of the right upper and left lower lobes with bilateral pleural effusion. Admission laboratories were consistent with nephrotic syndrome. Streptococcus pneumoniae grew from the blood culture and the child responded well to treatment with intravenous ceftriaxone. She was found to be HIV-infected, her CD4(+) cell count was 3 cells/mcL and her plasma HIV-1 RNA was >750 000 copies/mL. A percutaneous gastrostomy tube was placed for supplemental nutrition. She was treated with stavudine, lamivudine, and nelfinavir via gastrostomy tube with good clinical response. Twenty-one months after instituting antiretroviral therapy, her weight and height had increased to the 50th and 10th percentile respectively, and she had complete resolution of her nephrotic syndrome. Her CD4(+) cell count increased to 1116 cells/mcL and her viral load has remained undetectable. HIV-1 associated nephrotic syndrome has been described in children with profound immunodeficiency. The course of untreated HIV-associated nephrotic syndrome is rapid progression to renal failure in up to 40% of the children. Regardless of the presence of renal insufficiency, if untreated, it is uniformly fatal. A modest improvement of HIV-1 associated nephrotic syndrome has been observed in patients treated with zidovudine. Steroid and cyclosporine treatment have resulted in improved renal function but long-term use of immunosuppressive therapy has raised concerns about safety. We have described, to our knowledge, the first child with HIV-associated nephrotic syndrome who had a remarkable clinical, immunologic, and virologic response to triple-drug combination therapy given by gastrostomy tube, with complete resolution of proteinuria and normalization of the serum albumin. She also had a striking improvement in weight, height, and quality-of-life. Whether the presence of a gastrostomy tube contributed to the excellent response because of improved compliance is unknown, but warrants systematic evaluation.
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PMID:Resolution of HIV-associated nephrotic syndrome with highly active antiretroviral therapy delivered by gastrostomy tube. 1058 95

Cytomegalovirus (CMV) pneumonia is a major cause of morbidity and mortality in allogeneic bone marrow transplant and lung transplant recipients. However, its role as a cause of lung disease in patients with the human immunodeficiency virus (HIV) is controversial. Although CMV can be isolated from lung specimens in patients with HIV-associated respiratory illness, it is rarely the causative pathogen. Most adults with HIV infection have latent CMV infection of many tissues including the lung, and most cases of CMV pneumonia are believed to be caused by reactivation secondary to severe immunocompromise. The clinical presentation of pneumonia caused by CMV pneumonia is similar to that of Pneumocystis carinii, with fever, cough, hypoxemia, and diffuse radiographic opacities. Although the two infections can not be differentiated on clinical grounds alone, the presence of extrapulmonary CMV disease and the use of recent cytotoxic chemotherapy or corticosteroids suggests the diagnosis of CMV pneumonia. Although approximately 60% of cases respond initially to anti-CMV therapy, the disease is associated with progression and high early mortality, probably related to severe underlying immunosuppression.
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PMID:Cytomegalovirus pneumonia. 1063 15

A 36 year old male was admitted in December 1997 to hospital with afternoon fever, malaise and hepatosplenomegaly. He also had a dry cough, dyspnoea and anaemia. Pneumonia caused by Pneumocystis carinii and human immunodeficiency virus (HIV) infection were documented. The HIV infection was confirmed in 1997 with 290,000 virus copies. The patient had been in the Mexican State of Chiapas which is known to be endemic for visceral leishmaniosis (VL) and localized cutaneous leishmaniosis (LCL). The visceral symptoms were diagnosed as VL and the causal agent was identified as Leishmania (L. ) mexicana. Identification of Leishmania was carried out by the analysis of amplified DNA with specific primers belonging to the Leishmania subgenus and by dot blot positive hybridisation of these polymerase chain reaction derived products with kDNA from the L. (L. ) mexicana MC strain used as probe. This is the first case in Mexico of VL caused by a species of Leishmania that typically produces a cutaneous disease form.
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PMID:Visceral leishmaniosis caused by Leishmania (L.) mexicana in a Mexican patient with human immunodeficiency virus infection. 1099 26

Background: In Japan, since the introduction of antituberculosis chemotherapy, the typical choroidal tuberculoma has been considered uncommon. A patient with acquired immunodeficiency syndrome (AIDS), because of the suppression of cell mediated immunity, faces the risk of tuberculous infection.Case: A 30-year-old Malayan man had continuous cough for 6 months. He was diagnosed as having miliary tuberculosis of the lung and spine. Because the serum test of human immunodeficiency virus (HIV) was positive, he was also diagnosed as having AIDS.Findings: Fundus examination showed a yellow white swollen lesion of the choroid with distinct border in his right eye, probably caused by tuberculosis. After 3 months of therapy with antituberculosis and anti-HIV drugs, his systemic and ocular findings were markedly improved.Conclusion: Because of the recent increase in the incidence of tuberculosis with the epidemic of HIV prevailing in the world, the recognition of ocular tuberculosis is important.
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PMID:Choroidal Tuberculoma in a Patient with Acquired Immunodeficiency Syndrome. 1109 9

A patient with end-stage renal disease due to human immunodeficiency-associated nephropathy developed fever, cough and chest pain over a week's duration. He was diagnosed with lung abscess and started on antibiotic coverage. He underwent bronchoscopy because of progression of his illness and persistent fever and bronchoalveolar lavage culture isolated Legionella micdadei. In spite of appropriate antibiotic therapy, the patient remained febrile for 10 days, necessitating chest tube drainage. After a 6-week course of antibiotics and drainage, the patient made an uneventful recovery. Infections due to L. micdadei may be hard to diagnose because of difficulties in isolating this bacteria.
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PMID:Legionella micdadei lung abscess in a patient with HIV-associated nephropathy. 1144 94

Patients with human immunodeficiency virus (HIV) infection are prone to develop pulmonary infections like nocardiosis. It is often misdiagnosed as pulmonary tuberculosis since the manifestations are similar. A twenty-seven years old male presented with fever, cough with expectoration and weight loss for two months. Chest radiograph showed opacity in the right mid zones. Sputum smears were negative for acid fast bacilli (AFB) and revealed gram positive branching filamentous organisms resembling Nocardia species. Subsequently, Nocardia was grown on sputum culture. HIV antibody was positive by ELISA test. He was treated with co-trimoxazole. If sputum is repeatedly tested negative for AFB in the setting of radiological suspicion of tuberculosis, testing for Nocardia species should be considered in the HIV-infected patients.
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PMID:Pulmonary nocardiosis in human immunodeficiency virus infection: a tuberculosis mimic. 1159 Feb 88

Blastomycosis is a fungal infection acquired via inhalation of Blastomyces dermatitidis. The majority of cases occur in central, southeastern, and mid-Atlantic areas of the United States. We report the case of a 42-year-old veteran infected with the human immunodeficiency virus who presented in E1 Paso, Texas, with a dry cough, fever, and recent weight loss. We review the clinical and epidemiologic features of blastomycosis. Diagnostic criteria and pharmacologic management are discussed. Active duty personnel are at high risk of exposure to B. dermatitidis. Military providers should maintain an index of suspicion for blastomycosis in endemic and nonendemic regions.
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PMID:Acquired immunodeficiency syndrome-related blastomycosis in an unusual geographic location. 1172 16

A 31-year-old homosexual man, who was human immunodeficiency virus (HIV)-positive was admitted for fever and cough. Chest computed tomography (CT) revealed the presence of diffuse interstitial reticular nodulation, and brain nuclear magnetic resonance imaging showed the presence of nodular frontal lesions. Microscopic examination of sputum and other body fluids showed the presence of acid-fast bacilli and culture-only growth Mycobacterium tuberculosis. Serology for respiratory tract pathogens was negative except for Chlamydia. An antibody titer in the immunoglobulin G (IgG) class of 1:64 for Chlamydia pneumoniae and, unexpectedly, an antibody titer of 1:1024 for C. trachomatis were found. The patient was successfully treated with antituberculosis agents, and clarithromycin, for presumptive chlamydial infection.
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PMID:Chlamydia trachomatis and Mycobacterium tuberculosis lung infection in an HIV-positive homosexual man. 1178 74


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