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)

Viruses and bacteria in bronchoalveolar lavage fluids, protected specimen brush samples, and bronchial biopsies from 14 patients with primary hypogammaglobulinemia (11 patients with common variable immunodeficiency [CVID] and three patients with X-linked agammaglobulinemia [XLA]) were analyzed. At the time of the study, the patients had no signs of acute respiratory infections, and no antibiotics were administered. In addition to routine bacterial and viral cultures, polymerase chain reaction tests were used for the detection of adenovirus, cytomegalovirus (CMV), herpes simplex virus 1, enterovirus, rhinovirus, Borrelia burgdorferi, Chlamydia pneumoniae, Legionella spp., Mycoplasma pneumoniae, Pneumocystis carinii, and Ureaplasma urealyticum. Viruses (four adenoviruses, one CMV, and one rhinovirus) were detected in four of the 11 (36%) CVID patients. No viruses were found in the three patients with XLA or in 13 control patients. Bacteria from the lower respiratory tract were detected in nine of the 14 (64%) patients with hypogammaglobulinemia and three of the 13 (23%) control patients. Haemophilus influenzae was the most prevalent bacterium (43%) in the hypogammaglobulinemia patients. The study shows that patients with CVID harbor viral and bacterial infections in the lower respiratory tract, which may predispose to the development of changes in the respiratory tract.
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PMID:Viruses and bacteria in bronchial samples from patients with primary hypogammaglobulinemia. 1019 66

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to mutations, a number of variants or polymorphisms have been found. Mutations in all the five domains of BTK cause the disease, the single most common event being missense mutations. Most mutations lead to truncation of the enzyme. The mutations appear almost uniformly throughout the molecule. About one-third of point mutations affect CpG sites, which usually code for arginine residues. The putative structural implications of all the missense mutations are provided in the database. BTKbase is available at http://www.uta.fi/imt/bioinfo.
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PMID:Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 1022 Jan 40

Two patients with Bruton's X-linked agammaglobulinemia are described with bacteremia and skin/bone infection due to an organism which by 16S rRNA gene sequence analysis was most closely related to "Flexispira" rappini (and thus designated a Flexispira-like organism, FLO) and more distantly related to the Helicobacter species. The organism required microaerobic conditions and, supplemental H(2) gas for growth and was reliably stained with acridine orange. In common with Helicobacter cinaedi infections, the focus of the FLO infection was in one case in the blood vessels or lymphatics of an extremity and in the other case in the skin and adjacent bone of an extremity. In both cases, prolonged IV antibiotic therapy was necessary to clear the infection. The susceptibility of XLA patients to FLO infection appears to be related to the fact that XLA is associated with severe B cell (humoral) immunodeficiency and thus these patients have difficulty with intravascular or intralymphatic infection. These findings elucidate the nature of FLO infections in humans and point the way to their detection and treatment.
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PMID:Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species. 1102 52

Physicians in the United States who treat patients with primary immunodeficiency were contacted to identify subjects who had been infected with hepatitis C due to exposure to contaminated intravenous immunoglobulin (IVIg) in 1993-1994. From this survey we gathered information on 58 PCR-positive hepatitis C-infected patients; 37 had CVID, 9 had XLA, 5 were IgG subclass deficient, 4 were antibody deficient with normal immunoglobulin levels, 2 had SCID after BMT, and 1 had B cell linker deficiency. Of the 58 subjects, 30 had been treated with IFN-alpha in combination with ribavirin in 5 cases, and 26 other subjects were not treated. Of those who were treated, 11 (37%) resolved the infection and became PCR-negative; of the 26 who were not treated, 5 (19%) have resolved the infection, outcomes not significantly different. Patients 20 years of age or younger had a significantly better outcome compared to those older than age 20 (P = 0.02). Five subjects of the 58 have had a liver transplantation, a sixth has had two transplants, and 10 (17%) of the group have died. This survey demonstrates the heterogeneity of the clinical outcome in subjects with primary immunodeficiency who contracted hepatitis C due to viral contamination of IVIg.
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PMID:Outcome of intravenous immunoglobulin-transmitted hepatitis C virus infection in primary immunodeficiency. 1172 20

Bruton's XLA and DiGeorge syndrome patients show that two basic immune systems are distinct from each other in humans - thymus-dependent cell-mediated immunodeficiencies vs. antibody-based immunodeficiencies. The appendix-sacculus lymphoid organ of rabbits, like the bursa of Fabricius, represents a central lymphoid organ. Chronic granulomatous disease of childhood (CGD) revealed that phagocytosis killing of catalase-positive microorganisms employ oxidative burst. Bone marrow transplantation (BMT) proved life saving in severe combined immunodeficiency (SCID). The first BMT cured XSCID and the second BMT cured a complicating aplastic anemia launching BMT as a treatment of many diseases. Now 75 fatal diseases have been cured by myeloablative BMT. BMT also cured experimental autoimmune diseases. BMT alone did not cure lupus with polyarthritis in MRL/lpr mice or polyarthritis in NZB/KN mice, but BMT plus bone (stromal cell) transplants cured these diseases. Autoimmune diseases and lethal glomerulonephritis were prevented or cured in BXSB mice by mixed allogeneic plus syngeneic BMT. X-linked Hyper IgM syndrome (XHIM) was also cured by BMT from a 2-year-old MHC-matched sibling donor. Nonmyeloablative BMT plus mesenchymal stem cells (stromal cells) was effective treatment for a form of collagen-vascular disease and also a lethal form of hypophosphatasia. Mannan-binding lectin, an opsonin that activates the complement system when mutated and at low levels in blood, opens a door to frequent infections throughout childhood and adult life. This new immunodeficiency is based on genetic mutations that involve a native defense system.
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PMID:Cellular immunology in a historical perspective. 1219 Sep 28

In order to determine the clinical and laboratory features of X-linked agammaglobulinemia, the records of 33 male patients with XLA were reviewed during 22 years (1980-2002) in the Iranian referral center of primary immunodeficiency disorders. The patients' ages ranged from 20 to 360 months (median 113 months). The median age at the onset of the disease was 8 months and the median age of diagnosis was 48 months, with a median diagnosis delay of 33 months. Almost all of the patients presented common infectious diseases, which were: pneumonia, otitis, diarrhea, sinusitis, and arthritis. During the course of illness, infections in the respiratory tract, gastrointestinal tract, central nervous system, and musculoskeletal system were seen in 93.9%, 75.8%, 33.3%, and 21.2% of XLA patients, respectively. The most common complications of these patients were chronic infections in 75.8% of them, including: chronic otitis media, chronic sinusitis, chronic diarrhea, and bronchiectasis.
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PMID:X-linked agammaglobulinemia: a survey of 33 Iranian patients. 1501 35

We retrospectively reviewed the clinical and immunological features as well as the outcome of children with a diagnosis of primary hypogammaglobulinemia, who were treated at the National Taiwan University Hospital between 1984 and 2001. A total of 33 patients were enrolled: seventeen patients with common variable immunodeficiency (CVID), six patients with selective immunoglobulin deficiencies (one subclass IgA and five IgG), four patients with severe combined immunodeficiency (SCID), three patients with transient hypogammaglobulinemia of infancy (THI) and three patients with X-linked (Bruton) agammaglobulinemia (XLA). In addition to recurrent sinopulmonary infections and prolonged fever, allergic diseases are noted in 76% of CVID patients and 100% of patients with selective immunodeficiencies. Immunoglobulin levels were extremely low in XLA and decreased in CVID patients. Three SCID patients had decreased mean absolute lymphocyte counts of 290/mm3. Long-term complications included bronchiectasis in 2 XLA patients, 2 CVID patients and 1 patient with selective immunodeficiency; short stature in one of each XLA, SCID, and CVID patients respectively; poor school performance in 2 SCID patients and 1 XLA patient; and hemolytic anemia in 1 CVID patient. We concluded that in addition to a thorough physical examination, a family history of early death from infection and past history of neonatal hyperbilirubinemia, are crucial in evaluating a patient with suspicious primary hypogammaglobulinemia. The associated symptoms of primary hypogammaglobulinemia, such as recurrent sinopulmonary infections, prolonged fever and allergic diseases, are also diagnostic clues. In the treatment of hypogammaglobulinemia, early and regular high doses of Intravenous immunoglobulin (IVIG) supplement may avoid the development or decrease the severity of bronchiectasis.
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PMID:Immunological and clinical features of pediatric patients with primary hypogammaglobulinemia in Taiwan. 1536 55

Bruton's disease is the most frequently primary X-linked immunodeficiency. Bruton's tyrosine kinase (Btk) is encoded by the XLA gene that when mutated causes bruton's disease. This protein acts in multiple intracellular signaling pathways where the BCR (B-cell receptor) pathway is the most elucidated. Moreover 400 mutations were found and identified as responsible for B-cells differentiation block; consequences are a lack of B-cells in peripheral blood and hypo/agammaglobulinemia. Thus, patients are more susceptible to early and recurring infections occurring before the age of one year. Laboratory testing allow differential diagnosis among primary immunodeficiencies in which others hypogammaglobulinemia. Genetic analyses help physicians for clinical and biological diagnosis, and allow prenatal diagnosis for patient's family. Patient's management is based upon polyclonal immunoglobulin supplementation, infectious diseases prevention and genetic advice.
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PMID:[Primary immunodeficiencies and Bruton's disease genetic analysis: which prospects offers this genetic diagnosis?]. 1704 Aug 72

Bruton's disease is the most frequently primary X-linked immunodeficiency. Patients are more susceptible to early and recurring infections associated with hypo/agammaglobulinemia and a severe B-cell deficiency. Moreover, 400 mutations were found in the XLA gene which codes the Btk tyrosine kinase and were identified as responsible for Bruton's disease. Genetic study was carried out with one group of patients named NECKER, composed by five XLA patients and two parents whose XLA gene was sequenced by an Italian crew. Results were obtained by PCR of 19 exons and initial/terminal intron's parts, followed by PCR-sequencing with universal primers and sequencing. The results from this study allowed the validation of the sequencing technique by comparing NECKER group data (equivalent results with Italian data). In addition, the mutation multiplicity (described or not, coding/non coding) need an exact analysis that should be given to clinicians through clear and trustful results. In this way, a strategy to analyse untreated results was created based on the mutation type. The genetic analysis could help physicians for uncertain diagnosis in immune defficiencies, allows proposing a genetic advice to the patient's family and the construction of a data base permits a best understanding of this disease.
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PMID:[Validation of a Bruton's disease genetic analysis method]. 1704 Aug 75

Nutrition is an important factor that influences immunity, and nutritional deficiencies can impair resistance to infections. Malnutrition is the most common cause of immunodeficiency worldwide. Trace elements such as zinc, selenium, iron, and copper can influence several components of immunity. Primary antibody deficiency disorders are a group of disorders characterized by an unusual susceptibility to infections and malnutrition. Impaired nutritional status has been reported in immunodeficient patients. The aim of this study was to determine anthropometric indices and trace elements status in these patients. Thirty-eight children (28 males, 10 females, aged 2-18 years) with primary antibody deficiency referring to Children's Medical Center of Tehran University of Medical Science were enrolled in this research. Primary immunodeficiency disorders consisting of CVID, XLA, IgA deficiency, IgG subclass deficiency, and hyper IgM were assessed. Anthropometric indices, comprised of height, weight that were measured and body mass index (BMI) was calculated. Height-for-age (HAZ), weight-for-height (WHZ) and weight-for-age (WAZ) were determined according to Z-score to study mild, moderate and severe malnutrition. Serum copper, zinc, selenium and iron levels were measured by an atomic absorption spectrometer. The most common disorders were CVID 52.5% and X-linked agammaglobulinaemia 27.5%. Based on BMI measurements 21.1% of patients had malnutrition. According to HAZ, 13.2%, 13.2% and 36.8% had severe, moderate and mild malnutrition, respectively. According to WAZ, 10.5%, 18.4% and 28.6% had severe, moderate and mild malnutrition, respectively. Regarding to WHZ, 14.3% and 28.6% had moderate and mild malnutrition, respectively. Low selenium levels and high copper levels were observed in 37.5% and 70.3%, respectively. Anthropometric data showed that the frequency of malnutrition in these patients was higher than the CDC standard. Low serum selenium levels and high serum copper levels were observed, suggesting further research is needed on these parameters. Most of the patients had serum zinc and iron levels within the normal range. It is recommeded that clinical immunologists and nutritionists should make a collective effort to provide these patients with standard or specialized diets so as to decrease the risk of infection.
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PMID:A study of malnutrition in Iranian patients with primary antibody deficiency. 1730 13


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