Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prevention of EBV-associated lymphoproliferative diseases in immune deficient individuals is preferred; however, standard therapy for the B cell lymphomas has been successful. Chemotherapy must be given cautiously lest further immune compromise result in opportunistic infections. Recently, Acyclovir has decreased morbidity of patients with acute infectious mononucleosis in immune competent persons. In contrast, immunodeficient patients with X-linked lymphoproliferative (XLP) syndrome do not seem to respond favorably. Hence, a prospective study is underway using prophylactic immunoglobulin containing (EBV)-specific antibodies. The mortality rate is 85% following EBV infection in XLP due to fatal infectious mononucleosis associated with fulminant hepatitis and virus-associated hemophagocytic syndrome, acquired hypogammaglobulinemia or malignant B cell lymphoma. We can detect XLP by noting failure of switching from IgM to IgG antibody production on secondary challenge with bacteriophage phi X174. Also, linkage studies with the XLP locus using restriction fragment length polymorphisms are being done to detect affected males pre-EBV infection. Our rationale for prevention of phenotypes of XLP is based on observations that infants in tropical Africa and males with XLP do not develop EBV-induced diseases while neutralizing maternal antibodies are present. An EBV vaccine will be used, when available, in seronegative males with XLP. Prevention of acquired immune deficiency by screening blood for human immune deficiency virus, encouraging prudent life styles, development of specific immunosuppressive agents, development of new antiviral agents (i.e., DHPG), and identification of high risk seronegative patients offer possibilities for preventing life-threatening EBV-induced diseases.
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PMID:Prevention and treatment of Epstein-Barr virus (EBV)-associated lymphoproliferative diseases in immune deficient patients. 243 95

Four patients (2 with X-linked, one with common variable hypogammaglobulinaemia, and 1 with ulcerative colitis) developed non-A, non-B hepatitis (NANBH) following administration of a specific batch of intravenous immunoglobulin (IV IgG) manufactured by the Scottish National Blood Transfusion Service using the pH4/mild pepsin method. Each patient had normal serum ALT levels over a preceding period of 12-67 months, with raised values developing within 4-18 weeks of first administration of the implicated batch. Two patients had very mild symptoms of hepatitis, the other 2 being asymptomatic. Over a follow-up period of 8-12 months, ALT levels returned to normal in 3 patients, but biopsy-proven chronic NANBH developed in the fourth. The level of NANBH virus in the starting plasma used to manufacture this batch may have exceeded the capacity of the process to inactivate the virus. The transmission of NANBH by one of approximately 110 batches administered demonstrates the importance of continued close surveillance of recipients of IV IgG, even if asymptomatic, by regular monitoring of liver function tests and recording of all batches received.
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PMID:Transmission of non-A, non-B hepatitis by pH4-treated intravenous immunoglobulin. 211 88

Primary X-linked (Bruton's) hypogammaglobulinaemia is uncommon. It usually presents clinically within the first two years of life--typically after the age of three months when maternal IgG is exhausted. Its diagnosis in middle life is exceptional. The presentation of the condition as a triple infection in a middle-aged man therefore seemed worthwhile reporting, as effective and safe prophylactic immunotherapy is now available.
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PMID:Simultaneous Streptococcus pneumoniae, Giardia lamblia and Campylobacter pylori infection: an adult presentation of X-linked hypogammaglobulinaemia. 263 Dec

We have recently demonstrated that B cells from obligate carriers of typical X-linked agammaglobulinemia (XLA) exhibit nonrandom X chromosome inactivation. The active X is always the X that does not carry the gene defect. To determine if this were also true in carriers of atypical XLA and to provide carrier detection for all women at risk of being carriers of XLA, we developed a technique that permits analysis of X chromosome inactivation in cells from any woman. This technique combines the production of somatic cell hybrids that selectively retain the active X chromosome with the use of X-linked restriction fragment length polymorphisms that permit the distinction of the two X chromosomes. Three obligate carriers of typical XLA and four women whose sons might be considered to have atypical or sporadic XLA were studied. B cell hybrids from all seven women demonstrated exclusive use a single X as the active X. In addition, B cell hybrids from four of eight women at 25% or 50% risk of being carriers exhibited nonrandom X chromosome inactivation, indicating that these women were also carriers of X-linked forms of hypogammaglobulinemia. These results illustrate a technique that can be used both to help define XLA and to provide carrier detection for all women at risk of being carriers of this disorder.
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PMID:Carrier detection in typical and atypical X-linked agammaglobulinemia. 289 33

X chromosome-linked severe combined immunodeficiency (XSCID) is characterized by markedly reduced numbers of T cells, the absence of proliferative responses to mitogens, and hypogammaglobulinemia but normal or elevated numbers of B cells. To determine if the failure of the B cells to produce immunoglobulin might be due to expression of the XSCID gene defect in B-lineage cells as well as T cells, we analyzed patterns of X chromosome inactivation in B cells from nine obligate carriers of this disorder. A series of somatic cell hybrids that selectively retained the active X chromosome was produced from Epstein-Barr virus-stimulated B cells from each woman. To distinguish between the two X chromosomes, the hybrids from each woman were analyzed using an X-linked restriction fragment length polymorphism for which the woman in question was heterozygous. In all obligate carriers of XSCID, the B-cell hybrids demonstrated preferential use of a single X chromosome, the nonmutant X, as the active X. To determine if the small number of B-cell hybrids that contained the mutant X were derived from an immature subset of B cells, lymphocytes from three carriers were separated into surface IgM positive and surface IgM negative B cells prior to exposure to Epstein-Barr virus and production of B-cell hybrids. The results demonstrated normal random X chromosome inactivation in B-cell hybrids derived from the less mature surface IgM positive B cells. In contrast, the pattern of X chromosome inactivation in the surface IgM negative B cells, which had undergone further replication and differentiation, was significantly nonrandom in all three experiments [logarithm of odds (lod) score greater than 3.0]. These results suggest that the XSCID gene product has a direct effect on B cells as well as T cells and is required during B-cell maturation.
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PMID:Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. 289 55

Observation of a patient with acquired hypogammaglobulinemia associated with a mononucleosis syndrome led to the identification of one of the largest families affected by the X-linked lymphoproliferative (XLP) syndrome in the world. It is the first such family identified in Switzerland and the largest in Europe. At least nine male subjects over two generations presented phenotypic expressions consistent with the XLP syndrome. Study of the pedigree extending over seven generations suggests that the mutation occurred in the proband's great-grandmother. In the next generation, a second mutation of the X chromosome in one branch of the family resulted in expression of hemophilia A in the children. This remarkably large family, comprising six living obligate female carriers, displays a wide spectrum of the XLP syndrome and offers valuable information for future genetic linkage studies and for genetic counseling.
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PMID:X-linked lymphoproliferative syndrome. Identification of a large family in Switzerland. 334 54

E- cells from three patients with X-linked and three patients with non-familial 'common variable' hypogammaglobulinaemia were stained by indirect immunofluorescence with a panel of B cell specific monoclonal antibodies (anti-Bp95, Bp35 and Bp135). The number of B cells detected with the pan-B cell antibodies was variable between patients. One patient in each group was found to have near normal numbers of circulating B cells although those of the X-linked patient were clearly immature.
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PMID:B cells in patients with X-linked and 'common variable' hypogammaglobulinaemia. 353 22

The group of patients consisted of 4 pairs of male siblings with the family history suggesting X-linked immunodeficiency. The concentration of serum immunoglobulins (Ig) and the titer of anti-E. coli and anti-Candida albicans antibodies was extremely low in comparison to the control group. Only 2 siblings showed normal number of lymphocytes with surface Ig. Four out of 8 children had the increased number of Fc-IgG bearing T cells. Blast transformation of lymphocytes revealed the decreased response to PHA and Con A in 2 children. Cellular immunoglobulin (cIg) synthesis of in vitro stimulated peripheral blood lymphocytes (PBL) was decreased in all 8 children. Prednisolone, when added to the PBL cultures, increased cIg synthesis in 2 children. Thymosin (TFX) caused an enhancement of cIg production by lymphocytes of 4 children. Cowan I--elicited stimulation of PBL was low in all but 2 children. Our data further support the view on the heterogeneity of etiopathogenesis of hypogammaglobulinemia.
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PMID:Immunoglobulin synthesis by lymphocytes of eight immuno-deficient children. 390 93

Hepatitis occurring in patients with congenital X-linked or common variable hypogammaglobulinemia has been reported to follow a usual pattern of rapid progression from acute hepatitis to either chronic active hepatitis or death. This article describes a 21-year-old black man with congenital X-linked hypogammaglobulinemia who has been known to be a hepatitis B-associated antigen carrier during a 9-year follow up period. Liver enzyme studies are normal. His immunologic studies demonstrate no impairment of cellular immunity. His brother, who has the same disease and lives in the same household, has remained negative for hepatitis B-associated antigen. This patient demonstrates that not all hypogammaglobulinemia patients invariably have a severe clinical course with hepatitis.
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PMID:Congenital X-linked hypogammaglobulinemia and asymptomatic hepatitis B antigen carrier state. 403 21

The therapeutical use of gammaglobulin preparations in inborn immunodeficiency syndromes should be performed critically and only if an immunoglobulin lack exists which can be substituted. Immunodeficiency defects are listed according to the WHO-classification. For substitution of immunoglobulins plasma or different gammaglobulin preparations may be applied. The preparation of intravenous applicable preparations by different methods results in changes of half live times. The most important humoral immunodeficiency syndromes are the transitory hypogammaglobulinemia of infancy, the pathological hypogammaglobulinemia with delayed maturation of immunoglobulin-synthesis, the infantile X-linked agammaglobulinemia (Morbus Bruton) and the X-linked immunoglobulin deficiency syndrome with hyper-IgM. Intravenously applicable gammaglobulin preparations are preferred in the therapy the last two mentioned antibody deficiency syndromes which require large volumes. It has been demonstrated recently that these preparations are also suitable for continuous substitution.
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PMID:[Therapeutical application of gammaglobulin preparations in inborn immunodeficiency syndromes (author's transl)]. 617 May 72


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