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)

Chronic granulomatous disease (CGD) is a primary immunodeficiency of defective neutrophil oxidative burst activity due to mutations in the genes CYBA, NCF-1, NCF-2, and CYBB, which respectively encode the p22-phox, p47-phox, p67-phox, and gp91-phox subunits. CGD usually presents in early childhood with recurrent or severe infection with catalase-positive bacteria and fungi. We present an unusual case of CGD in which Burkholderia cepacia lymphadenitis developed in a previously healthy 10-year-old girl. Flow cytometric analysis of dihydrorhodamine (DHR)-labeled neutrophils performed by a CLIA-approved outside reference laboratory was reported as normal. However, we found that this patient's neutrophil oxidative burst activity in DHR assays was substantially reduced but not absent. A selective decrease in intracellular staining for p67-phox suggested the diagnosis of autosomal recessive CGD due to NCF-2 gene mutations, and a novel homozygous and hypomorphic NCF-2 gene mutation was found. The potential mechanisms for this delayed and mild presentation of CGD are discussed.
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PMID:Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. 1862 37

Thirty-six human immunodeficiency virus (HIV)-positive patients with lymphadenopathy were subjected to fine-needle aspiration cytology (FNAC) over a period of 2 years. The maximum number of cases was reported in the age group of 21 to 30 years. Majority of the patients were males. The maximum number of cases had tuberculosis (58.3%) followed by reactive lymphadenitis (36.1%), non-Hodgkin's lymphoma (2.7%) and acute suppurative lymphadenitis (2.7%). FNAC is an important diagnostic tool in the evaluation of lymphadenopathy in HIV-positive patients.
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PMID:Fine-needle aspiration cytology findings in human immunodeficiency virus lymphadenopathy. 2055 64

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second patient developed Mycobacterium tuberculosis complex lymphadenitis and probable pulmonary tuberculosis due to disseminated BCG infection. The patients also suffered from sclerosing cholangitis. Mutation analysis of the PNP gene from both sisters revealed a homozygous mutation for a G>A at nucleotide 349 (349 G>A transition), which changes alanine 117 to theronine in exon 4 (A117T). An increased awareness of early signs, symptoms, and abnormal laboratory findings of PNP deficiency will establish the early prognosis and treatment.
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PMID:Purine nucleoside phosphorylase deficiency with fatal course in two sisters. 1975 29

Genetic defects of interleukin (IL)-12/23-and interferon (IFN)-gamma-mediated immunity can cause increased susceptibility to intracellular microbes. Among these defects, a mutation of the gene encoding the IL-12 receptor beta1 (IL-12Rbeta1) is the most common worldwide. A 12-year old Thai boy with pre-existing neurofibromatosis type 1 (NF1) was evaluated for primary immunodeficiency after a history of tuberculous lymphadenitis, recurrent Salmonella infections and nocardiosis. Flow cytometry of phytohemagglutinin (PHA)-stimulated peripheral blood mononuclear cells (PBMCs) revealed a defect in the IL-12Rbeta1 surface expression. A genetic study showed a novel nonsense homozygous mutation of the IL12RB1 gene in exon 4 (402C > A), confirming the diagnosis of IL-12Rbeta1 deficiency. This is the first case report of a primary IL-12Rbeta1 deficiency in Thailand with the interesting finding of a coexisting NF1.
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PMID:A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand. 1983 3

Mycobacterial disease, and particularly tuberculosis (TB), is an escalating problem in developing countries, fuelled by the parallel human immunodeficiency virus (HIV) pandemic. In TB endemic countries children carry a very high burden of disease, which may be unrecognised due to the difficulty in making a diagnosis based on clinical, radiological or laboratory methods. One of the main hurdles is the difficulty of obtaining adequate specimens for bacteriological confirmation of disease in children. TB lymphadenitis is the most common extra-pulmonary manifestation of TB, and up to 22% of children with persistent cervical lymphadenopathy and no local cause may have tuberculous adenitis. Fine needle aspiration biopsy (FNAB), a simple and safe out-patient procedure that can be performed by nurses in resource-limited settings, and that provides material for direct microscopy as well as culture and susceptibility testing, provides an excellent opportunity to obtain bacteriological confirmation. However, it remains a greatly underutilised specimen collection modality. This review provides a comprehensive overview of the difficulties faced in the diagnosis of paediatric TB in resource-limited settings, and suggests ways to utilise FNAB as a practical modality for the rapid and effective diagnosis of mycobacterial disease in the significant subset of patients who present with peripheral lymphadenopathy. It also provides detail on how best to perform the technique, and suggests ways of making it more widely available in resource-limited settings, which carry the brunt of the paediatric TB disease burden.
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PMID:Fine needle aspiration biopsy: an undervalued diagnostic modality in paediatric mycobacterial disease. 1991 63

Chronic granulomatous disease (CGD) is a primary immunodeficiency, a phagocyte defect that appears in 1:200,000 live births and is produced by mutations in the genes that codify for the enzyme nicotinamide adenine dinucleotide phosphate oxidase (NADPH oxidase). The inheritance form is X linked (> 60%) or autosomic recesive (30-40%). The NADPH oxidase is responsible for the production of reactive oxygen species (ROS) in the activated phagocyte ("respiratory burst"). When present, mutations on the NAPDH oxidase genes do not allow the ROS production, making the neutrophils of these patients incapable to destroy pathogens. These patients are especially susceptible to infections by staphylococcus, fungi and some gram-negative bacteria. The main clinical manifestations include recurrent life-threatening episodes of lymphadenitis, abscess, pneumonias, osteomyelitis, granuloma formation and sepsis. The diagnosis is suggested by a history of recurrent infections, familiar cases, fail to grow and confirmed with an altered test of ROS production and the specific mutation. Allogenic stem cells transplant is the curative treatment. The early diagnosis and the treatment with prophylactic antibiotics and interferon-gamma have modified favorably the morbidity and mortality of these patients.
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PMID:[Chronic granulomatous disease]. 1999 20

Peripheral T-cell lymphomas are a heterogeneous group that often requires the use of ancillary testing for accurate diagnosis. This is particularly applicable to the diagnosis of angiommunoblastic T-cell lymphoma (AITL) and peripheral T-cell lymphoma, unclassified (PTCLU), because of their histologic and immunophenotypic overlap with reactive lymphoid proliferations. Recently, immunohistochemistry for programmed death-1 (PD-1), a marker of follicular helper T cells, was shown to be sensitive in the detection of AITL and PTCLU. The sensitivity of this marker in reactive entities, however, has not been adequately evaluated. We confirm that PD-1 staining is a highly sensitive marker in the diagnosis of peripheral T-cell lymphomas: increased extrafollicular PD-1-positive cells were seen in 93% (76/82) of AITL, 62% (16/26) of PTCLU, and 11% (2/18) of anaplastic-lymphoma-kinase (ALK)-negative anaplastic large-cell lymphomas. The majority of reactive lymphadenopathies including Cat-scratch disease, Kikuchi lymphadenitis, Castleman disease, and reactive follicular hyperplasia showed no PD-1 staining outside follicles. Some reactive lymph nodes, showed increased extrafollicular PD-1-positive cells in a pattern similar to AITL and PTCLU, and include progressive transformation of germinal centers, viral lymphadenitis (Epstein-Barr virusand human immunodeficiency virus) and Rosai-Dorfman disease. This study shows that PD-1-positive cells may be increased in a number of settings other than T-cell lymphomas. We conclude that staining for PD-1 in reactive and atypical lymphadenopathies should be interpreted with caution and in the context of other ancillary immunophenotypic and molecular studies before a diagnosis of AITL or PTCLU is entertained.
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PMID:PD-1 expression in T-cell lymphomas and reactive lymphoid entities: potential overlap in staining patterns between lymphoma and viral lymphadenitis. 2008 61

The resection specimens from 31 patients with fibrocavernous tuberculosis (FCT) underwent a complex clinical andimmunological study, as well as a morphological one. It was ascertained that partial or extended lymphadenectomy did not always positively correlate with an adequate postoperative immune response and it depended on the morphological features of lymphatic apparatus lesion. The direct results of surgical treatment of patients with FCT suggest that in patients with specific lymphadenitis and cell-mediated immunodeficiency, the frequency of postoperative specific pleuropulmonary complications and their severity considerably exceed those if there is an adequate immune response. In patients with progressive FCT, baseline cell-mediated immunity deficiency is aggravated by surgery, increasing the risk of postoperative specific and nonspecific infectious pleuropulmonary complications.
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PMID:[Differential approach to lymphadenectomy in patients with progressive fibrocavernous pulmonary tuberculosis]. 2009 72

We report a case of a 41-year-old male with human immunodeficiency virus (HIV)-associated lymphoproliferative disease (LPD) who was successfully treated with highly active antiretroviral therapy (HAART). He presented with epigastralgia, and an upper endoscopic examination revealed submucosal tumors and ulcerations in his stomach. Histopathologic examination of a biopsy specimen resulted in a diagnosis of diffuse large B-cell lymphoma. He also showed systemic lymphadenopathy; whereas, a concurrent inguinal lymph node biopsy produced a diagnosis of follicular hyperplasia. He was treated with CHOP chemotherapy but the response was poor. He demonstrated several immunological abnormalities, such as eosinophilia and bone marrow insufficiency, and was suspected to be in an immunocompromised state. He was examined for HIV infection and turned out to be positive. The gastric and inguinal lymph node specimens were re-evaluated and diagnoses of HIV-LPD and HIV lymphadenitis were made, respectively. He was treated with HAART and achieved complete remission and has remained tumor-free for 20 months. To the best of our knowledge, there is no previous report in which HIV-LPD was successfully treated with antiretroviral therapy alone. It is assumed that HAART resulted in the restoration of anti-tumor immunity in this case, which led to the eradication of LPD cells.
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PMID:A case of HIV-associated lymphoproliferative disease that was successfully treated with highly active antiretroviral therapy. 2021 83

Spironucleus spp are parasites of fish and terrestrial vertebrates, including mice and turkeys, that rarely cause extraintestinal disease. Two rhesus macaques (Macaca mulatta) were experimentally inoculated with simian immunodeficiency virus mac251. Both progressed to simian acquired immune deficiency syndrome within 1 year of inoculation and developed systemic protozoal infections in addition to common opportunistic infections, including rhesus cytomegalovirus, rhesus lymphocryptovirus, and rhesus adenovirus. In the first case, the protozoa were associated with colitis, multifocal abdominal abscessation, and lymphadenitis. In the second case, they were one of a number of organisms associated with extensive pyogranulomatous pneumonia and colitis. Ultrastructural, molecular, and phylogenetic analysis revealed the causative organism to be a species of Spironucleus closely related to Spironucleus meleagridis of turkeys. This report is the first of extraintestinal infection with Spironucleus sp in higher mammals and expands the list of opportunistic infections found in immunocompromised rhesus macaques.
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PMID:Systemic spironucleosis in 2 immunodeficient rhesus macaques (Macaca mulatta). 2035 59


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