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)

Disseminated Fusarium infection is a rare disease that is usually limited to immunocompromised patients. It more commonly occurs in patients with acute leukemia and prolonged neutropenia. We report a case of chronic Fusarium infection in an adult patient with undiagnosed chronic granulomatous disease (CGD), a primary immunodeficiency disorder in which phagocytic cells are defective in generating superoxide anion and its metabolites. The case is important because the patient had no manifestations of CGD until she was almost 60 years old and because this is, to our knowledge, the first reported case of Fusarium infection in a patient with CGD.
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PMID:Chronic Fusarium infection in an adult patient with undiagnosed chronic granulomatous disease. 1313 Apr 20

Nocardiosis is a rare disease, and worldwide, respiratory and disseminated infections are most often due to Nocardia asteroides which is recognised increasingly as an opportunistic infection in patients with underlying chronic debilitating disease or immunodeficiency. However, infection with N. otitidiscaviarum and pulmonary nocardiosis in an immune-competent host remains very rare. We report a 65-year-old immune-competent male with pulmonary N. otitidiscaviarum infection in whom complete cure was provided with a 6 months of antibiotic combination including trimethoprim-sulfomethaxazol. This is the first report of pulmonary N. otitidiscaviarum infection in an immune-competent patient from Turkey.
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PMID:First report of pulmonary Nocardia otitidiscaviarum infection in an immunocompetent patient from Turkey. 1505 71

Bronchial leiomyoma is a rare disease in children. Recently, the association of leiomyoma and HIV infection was reported. We describe a boy with a cellular immunodeficiency, who had endobronchial leiomyoma. The tumor cells were positive for Epstein-Barr virus-encoded RNA-1 (EBER-1) and Epstein-Barr virus-determined nuclear antigen-2, suggesting a role of Epstein-Barr virus in the pathogenesis of leiomyoma.
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PMID:Epstein-Barr virus-associated bronchial leiomyoma in a boy with cellular immunodeficiency. 1642 26

We report an immunodeficient patient with a rare gastrointestinal manifestation. A 26-year-old male with common variable immunodeficiency (CVID) and bronchiolitis obliterans, who was on intravenous gamma-globulin and prednisone, presented diffuse abdominal pain, nausea, vomiting and constipation of 3 days' duration. He reported 5 years of recurrent respiratory infections and diarrhea with negative stool tests, including tests for Strongyloides stercoralis. A physical exam revealed a poor general condition, anemia, dehydration and a distended painful abdomen with guarding, without abdominal sounds. The radiological study showed marked dilation of the small bowel that was edematous. Resection of the affected loop was performed and the histopathologic study showed transmural infection with S. stercoralis and hemorrhagic necrosis of the muscular layer, without mucosal destruction. The patient developed malabsorption syndrome and septic shock; he was treated with antibiotics and thiabendazole and was finally discharged in a good general condition. CVID is a rare disease and its association with systemic strongyloidiasis is very uncommon, but it has been reported in patients on corticosteroids. Hemorrhagic necrosis of the muscular layer without mucosal destruction was not found in the literature studied.
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PMID:A rare intestinal manifestation in a patient with common variable immunodeficiency and strongyloidiasis. 1668 1

Primitif cerebral lymphoma is a rare disease but has increased in incidence over the past decades. Most of them are diffuse B cell lymphomas. An ocular lymphoma (uveitis) is frequently associated. The clinical and radiological features are often suggestive but the diagnostic must be confirmed by histology (either by cerebral biopsy or cytology analysis of the CSF or vitrous). Despite therapeutic advances the prognostic remains poor (median survival range from 3 to 4 years) with frequent recurrences. High dose methotrexate followed by whole brain irradiation is the standard treatment and achieves a high rate of remission but the risk of delayed neurotoxicity is high. This complication is more frequent and severe for patients older than 60 years and chemotherapy alone is usually proposed in elderly people. Immunodeficiency is a contributing factor to the development of primitive cerebral lymphoma; in this setting, differentiating them from infectious lesions (toxoplasmosis in particular) may be difficult. These lymphomas have a poorerprognosis and radiotherapy without chemotherapy is often debated.
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PMID:[Primitif cerebral lymphoma]. 1731 4

Progressive multifocal leukoencephalopathy is a rare disease caused by the reactivation of an opportunistic agent, JC virus almost in every cases in immunodeficient conditions. The disease is characterized by multifocal demyelinating lesions of the central nervous system and causes death within a few months. The authors report two patients: a 67 year-old male treated because of chronic lymphoid leukemia, and a 19 year-old male having a hereditary immunodeficiency, X-linked hyper IgM syndrome. In both cases continuously progressive right, later both hemispheric signs were detected. Cerebrospinal fluid was not helpful. Brain MRI showed bilateral large, white matter lesion. The progression was not influenced by the treatment, finally both patient died ten and six weeks after the appearance of first complaints. The diagnosis was confirmed by brain biopsy and autopsy in both cases. Our cases demonstrate that progressive multifocal leukoencephalopathy can develop in various immunodeficiencies.
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PMID:[Progressive multifocal leukoencephalopathy]. 1757 75

Mulvihill-Smith syndrome is a rare disease that belongs to progeroid syndromes. This syndrome is characterized by a senile face with an underdeveloped lower half, short stature, microcephaly, multiple pigmented nevi, immunodeficiency, hearing loss, and high-pitched voice. We report anesthetic management of a 27-year-old woman, 138 cm and 27 kg, with this syndrome, who underwent removal of mandibular cyst, partial resection of tongue and keratoplasty. Anesthesia was induced with fentanyl, propofol and vecuronium. There was difficulty in maintaining adequate ventilation with a face mask for children, and we used a mask for infants. Her Cormack grade was rated 3 but her trachea could be intubated assisted by BURP procedure. Anesthesia was maintained with sevoflurane, nitrous oxide and oxygen supplemented with fentanyl. The changes of blood pressure during anesthesia were extraordinary, suggesting the presence of advanced arteriosclerosis. The postoperative course was uneventful, with stable hemodynamics, and the patient was discharged from the hospital on 9th postoperative day. Anesthesia for Mulvihill-Smith syndrome should be performed with caution for the potential risk of difficult airway and unstable hemodynamics.
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PMID:[Anesthetic management of a patient with Mulvihill-Smith syndrome]. 1763 48

Griscelli syndrome is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency, and an acute phase of uncontrolled T-lymphocyte, and macrophage activation. Griscelli et al described this syndrome in 1978. Since then, only in approximately 60 cases have been reported, most from the Turkish, and Mediterranean population. In microscopic examination, silvery gray hair with large, clumped melanosomes on the hair shaft is the diagnostic finding. Here, we present scanning electron microscopic study of hair in 2 cases of Griscelli syndrome, where the hair showed normal cuticular pattern but nodular structures were present as an abnormal findings.
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PMID:Light and scanning electron microscopic examination of hair in Griscelli syndrome. 1767 17

Leukocyte adhesion deficiency type-1 (LAD-1) is an autosomal recessive immunodeficiency caused by mutations in the beta2 integrin, CD18, that impair CD11/CD18 heterodimer surface expression and/or function. Absence of functional CD11/CD18 integrins on leukocytes, particularly neutrophils, leads to their incapacity to adhere to the endothelium and migrate to sites of infection. We studied 3 LAD-1 patients with markedly diminished neutrophil CD18 expression, each of whom had a small population of lymphocytes with normal CD18 expression (CD18(+)). These CD18(+) lymphocytes were predominantly cytotoxic T cells, with a memory/effector phenotype. Microsatellite analyses proved patient origin of these cells. Sequencing of T-cell subsets showed that in each patient one CD18 allele had undergone further mutation. Interestingly, all 3 patients were young adults with inflammatory bowel disease. Somatic reversions of inherited mutations in primary T-cell immunodeficiencies are typically associated with milder clinical phenotypes. We hypothesize that these somatic revertant CD18(+) cytotoxic T lymphocytes (CTLs) may have altered immune regulation. The discovery of 3 cases of reversion mutations in LAD-1 at one center suggests that this may be a relatively common event in this rare disease.
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PMID:Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). 1787 9

The chemokine CXCL12 and the receptor CXCR4 play pivotal roles in normal vascular and neuronal development, in inflammatory responses, and in infectious diseases and cancer. For instance, CXCL12 has been shown to mediate human immunodeficiency virus-induced neurotoxicity, proliferative retinopathy and chronic inflammation, whereas its receptor CXCR4 is involved in human immunodeficiency virus infection, cancer metastasis and in the rare disease known as the warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis (WHIM) syndrome. As we screened chemical libraries to find inhibitors of the interaction between CXCL12 and the receptor CXCR4, we identified synthetic compounds from the family of chalcones that reduce binding of CXCL12 to CXCR4, inhibit calcium responses mediated by the receptor, and prevent CXCR4 internalization in response to CXCL12. We found that the chemical compounds display an original mechanism of action as they bind to the chemokine but not to CXCR4. The highest affinity molecule blocked chemotaxis of human peripheral blood lymphocytes ex vivo. It was also active in vivo in a mouse model of allergic eosinophilic airway inflammation in which we detected inhibition of the inflammatory infiltrate. The compound showed selectivity for CXCL12 and not for CCL5 and CXCL8 chemokines and blocked CXCL12 binding to its second receptor, CXCR7. By analogy to the effect of neutralizing antibodies, this molecule behaves as a small organic neutralizing compound that may prove to have valuable pharmacological and therapeutic potential.
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PMID:Small neutralizing molecules to inhibit actions of the chemokine CXCL12. 1855 51


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