1/16. Atypical X-linked agammaglobulinemia diagnosed in three adults.OBJECT: X-linked agammaglobulinemia (XLA) is one of the most common humoral immunodeficiencies characterized from childhood by the absence of peripheral B lymphocytes, reduced levels of serum immunoglobulins and recurrent and severe bacterial infections. These characteristics are the result of Bruton's tyrosine kinase (Btk) protein deficiency in peripheral B lymphocytes. In addition to typical XLA, several atypical cases have been recognized, who exhibited mild or even no clinical symptoms, although they were definitely deficient in Btk protein (atypical XLA). In these patients peripheral B lymphocytes and serum immunoglobulins (Igs) are detectable though at a lower level than in normal people. To clarify the discrepancies between the Btk gene mutations and the phenotypes more atypical patients should be examined. In this study we evaluated the cytoplasmic Btk protein in peripheral monocytes of some hypogammaglobulinemia adults by means of flowcytometric analysis. MATERIALS AND methods: Heparinized venous blood samples were collected from some hypogammaglobulinemia adults. Mononuclear cells were separated from their blood and first reacted with a phycoerythrin-labeled CD14 monoclonal antibody (MoAb) (staining of monocyte membrane). Next, the cells were fixed and permeabilized. And then these permeabilized cells were reacted with an anti-Btk MoAb (staining of cytoplasmic Btk protein) and incubated with a FITC-conjugated goat antimouse IgG1. The double-stained cells were analyzed on a flowcytometer. RESULTS AND CONCLUSION: By means of flowcytometric analysis we diagnosed three hypogammaglobulinemia adults as XLA, who did not show typical clinical progress of XLA. Advancements in diagnostic methods has facilitated a prompt and definite diagnosis of this disease.- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
2/16. Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults.BACKGROUND: X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by disruption of the Bruton's tyrosine kinase (BTK) gene. Typical XLA patients suffer recurrent and severe bacterial infections in childhood. methods: Flow cytometric analysis of the peripheral monocytes using the anti-BTK antibody was used to characterize a 27 year old male patient with mild hypogammaglobulinemia (IgG, 635 mg/dl; IgM, 11 mg/dl; IgA, <5 mg/dl). He had suffered from frequent pneumonia since age 25 but had no history of frequent infections in his childhood or in adolescence. Sequencing of the BTK cDNA obtained from an Epstein-Barr virus-transformed B lymphoblastoid cell line derived from the bone marrow of the patient was performed to confirm a genetic defect. RESULTS: Flow cytometric analysis of cytoplasmic BTK protein in peripheral monocytes indicated that the patient presents a rare case of adult-onset XLA and that his mother is an XLA carrier. Sequencing of the BTK gene revealed a deletion of AG in the codon for Glu605 (AGT), resulting in an aberrant stop codon that truncates the BTK protein in its kinase domain. CONCLUSIONS: This case suggests that some XLA cases may remain undiagnosed because they only show mild hypogammaglobulinemia and they lack repeated infections in childhood. Flow cytometric analysis is a powerful method to screen these patients.- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
3/16. survival of wild polio by a patient with XLA.BACKGROUND: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by failure of B-cell differentiation and hypogammaglobulinemia. In addition to being susceptible to bacterial infections, patients with XLA are also susceptible to enteroviruses. Systemic enterocytopathogenic human orphan virus (ECHO), coxsackie virus, and vaccine-related polio infections have caused severe morbidity and high mortality rates in XLA patients. OBJECTIVE: We report a 54-year-old male with molecularly defined XLA who survived wild poliomyelitis in childhood before the diagnosis of XLA. methods: At age 5, in 1951, the patient contracted wild polio, characterized by diarrhea and motor weakness. He subsequently developed recurrent sinusitis, bronchitis, and pneumonia, and at age 31 was found to be hypogammaglobulinemic and was started on immunoglobulin replacement. Laboratory evaluation at age 47 revealed an immunoglobulin g of 256 mg/dL, and B-cells (CD19) of 0.1%. mutation analysis of Bruton's tyrosine kinase revealed a 26-basepair deletion between nucleotides 146 and 173 within the plextrin homology domain, resulting in a frameshift and premature termination. CONCLUSIONS: Resolution of wild poliovirus infection is possible in patients with XLA.- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
4/16. The clinical spectrum of Bruton's agammaglobulinemia.X-linked, or Bruton's, agammaglobulinemia (XLA) was described in 1952 as the congenital inability to form antibodies. patients were typically infants or young children with recurrent, severe bacterial infections. Other, milder cases of hypogammaglobulinemia were considered "acquired," and often presented later in life. Since the discovery of the defective gene in XLA in 1993, it has been shown that a significant number of male patients with sporadic or acquired hypogammaglobulinemia actually have XLA. We present here a case of atypical XLA and discuss similar cases in the literature. We conclude that any male with hypogammaglobulinemia, regardless of age of presentation, might have XLA. Males with low B-cell numbers are particularly likely to have XLA and should have Bruton's tyrosine kinase levels assessed.- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
5/16. X-linked agammaglobulinemia diagnosed in adulthood: a case report.X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK). patients typically become symptomatic during infancy or early childhood and develop recurrent bacterial infections. We report a Japanese case of XLA diagnosed in a patient who was 27 years of age and who had no history of severe infection. The patient's serum immunoglobulin (Ig) G, IgA, and IgM levels were 132,7, and 17 mg/dL, respectively. The percentage of positive cells for CD19 and CD20 was 0.03% and 0.02%, respectively. The patient's brother and sister had no abnormalities. Flow cytometric analysis showed a partially reduced expression of BTK protein in the patient's peripheral monocytes. Sequencing of the BTK. gene revealed a missense mutation (230C>T,T33I). Given this data, this patient was diagnosed as having rare, late onset XLA with a missense mutation in the BTK gene.- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
6/16. Transient hypogammaglobulinemia of infancy with severe bacterial infections and persistent iga deficiency.A 1-year-old boy who had had recurrent episodes of sepsis was found to have transient hypogammaglobulinemia of infancy and was treated with gammaglobulin supplements. He subsequently remained IgA deficient and a regulatory T cell imbalance was found.- - - - - - - - - - ranking = 4keywords = bacterial infection (Clic here for more details about this article) |
7/16. Intraventricular gamma-globulin for the management of enterovirus encephalitis.Although bacterial infections predominate in patients with hypogammaglobulinemia, patients who do not produce normal amounts of immunoglobulin also have an increased incidence of viral infections. This is particularly true of infections with enteroviruses. Echovirus encephalitis has been a major problem for patients with hypogammaglobulinemia. Neurologic damage, frequently resulting in death, has been common in such patients. Because there is an obligatory extracellular phase in the cell to cell spread of enteroviruses, therapy with immunoglobulin has been attempted. In certain patients intravenous and intrathecal gammaglobulin has temporarily halted progression of the disease, but no patients have been cured by this approach. In this report we detail treatment of three children with X-linked hypogammaglobulinemia who had encephalitis caused by echovirus infections. Despite doses of intravenous immunoglobulin that maintained the patients' IgG levels within the normal range, their condition deteriorated in all cases. Treatment with intraventricular immunoglobulin was then tried. In all three cases cerebrospinal fluid protein levels and cell counts returned to normal after this treatment and the echoviruses can no longer be isolated from the cerebrospinal fluid. Follow-up time has ranged from 18 months to 4 years. Ommaya reservoirs were placed into the lateral ventricle of each patient and concentrated (6%) immunoglobulin (Sandoglobulin) was injected into the reservoir on a daily basis. On Days 1 through 7 of the regimen patients were given 120, 300, 450, 510, 540 and 600 mg of IgG, respectively. patients then received 300 mg daily for periods ranging from 1 week to 1 month. Cultures of cerebrospinal fluid removed from the reservoir were repeatedly analyzed to determine the need for further treatment. Clinically the patients improved markedly.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
8/16. digeorge syndrome with hypogammaglobulinaemia: a patient with excess suppressor T cell activity treated with fetal thymus transplantation.A male infant with digeorge syndrome had hypogammaglobulinaemia with a normal number of B cells. CD3( ) T cells were reduced and the CD4( )/CD8( ) ratio was reversed. Proliferative responses of T cells to mitogens and to allogeneic cells were low. The pokeweed mitogen (PWM)-induced B cell differentiation assay revealed a higher than normal suppressor T cell activity. This suggests that some T cells had differentiated into functionally mature cells resulting in an imbalance of regulatory T cell functions and that excess suppressor activity might play a role in hypogammaglobulinaemia. Fetal thymus transplantation improved both cellular and humoral immunity. The patient's susceptibility to viral and bacterial infections, proliferative response of T cells and serum Ig concentration returned to normal. The excess suppressor activity seen before transplantation disappeared. Hypocalcaemia did not improve. These results show that fetal thymus transplantation was effective not only in reconstituting cellular immunity but also in normalizing the imbalance of regulatory T cell functions in this patient with digeorge syndrome.- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
9/16. haemophilus influenzae infections in adults: report of nine cases and a review of the literature.haemophilus influenzae is an aerobic pleomorphic gram-negative coccobacillus that requires both X and V factors for growth. It grows poorly, if at all, on ordinary blood agar unless streaked with Staph. aureus. It grows well on chocolate agar. Because this medium is often not used in culturing specimens from adults and because the organism may be overgrown by other bacteria, the frequency of H. influenzae infections has undoubtedly been seriously underestimated. This is aggravated by the failure of many physicians to obtain blood cultures in suspected bacterial infections and the failure of many laboratories to subculture them routinely onto chocolate agar. H. influenzae, along with streptococcus pneumoniae, is a major factor in acute sinusitis. It is probably the most frequent etiologic agent of acute epiglottitis. It is probably a common, but commonly unrecognized, cause of bacterial pneumonia, where it has a distinctive appearance on Gram stain. It is unusual in adult meningitis, but should particularly be considered in alcoholics; in those with recent or remote head trauma, especially with cerebrospinal fluid rhinorrhea; in patients with splenectomies and those with primary or secondary hypogammaglobulinemia. It may rarely cause a wide variety of other infections in adults, including purulent pericarditis, endocarditis, septic arthritis, obstetrical and gynecologic infections, urinary and biliary tract infections, and cellulitis. Antimicrobial susceptibility testing is somewhat capricious in part from the marked effect of inoculum size in some circumstances. in vitro and in vivo results support the use of ampicillin, unless the organism produces beta-lactamase. Alternatives in minor infections include tetracycline, erythromycin, and sulfamethoxazole-trimethoprim. For serious infections chloramphenicol is the best choice if the organism is ampicillin-resistant or the patient is penicillin-allergic.- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
10/16. Susceptibility to infections in children with selective IgA- and IgA-IgG subclass deficiency.This study included 36 children with IgA-deficiency, increased susceptibility to infections and/or other disorders. Recurrent, usually bacterial infections were noticed in 23 out of 26 patients (88%) with complete and in 7 out of 10 patients (70%) with partial IgA-deficiency. All patients with severe infections had complete IgA-deficiency. Complete IgA-deficiency was also present in the six children who had autoimmune disorders associated with recurrent infections. In 22 out of the 36 patients studied the serum could be analysed for concomitant IgG subclass deficiencies: one patient had marked decrease of IgG2. In a second patient IgG4 was not detectable. Two patients had combined IgG2-IgG4-deficiency. In a girl with severe acute and chronic infections and relapsing idiopathic thrombocytopenic purpura, IgA-IgG2-IgG4-deficiency was found to be the prodromal stage of common variable immunodeficiency with panhypogammaglobulinaemia.- - - - - - - - - - ranking = 1keywords = bacterial infection (Clic here for more details about this article) |
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