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M Duse

Publications and source records attributed to M Duse.

At least 37 records · Page 2Linked to original sources
PubMed1994

X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty.

Coinheritance of X-linked agammaglobulinemia and growth hormone deficiency (XLA/GHD) has been classified as an independent primary immune deficiency. We evaluated the pattern of growth and endocrine function in seven XLA subjects (ages 10.9-20.1 years); four belonged to two different XLA pedigrees and three represented sporadic XLA cases. Three had reached adulthood (final stature 176.0, 173.5 and 165.0 cm, respectively) and their retrospective growth showed delay in growth and puberty during adolescence. In the other four subjects, growth hormone production was measured by growth hormone pharmacological stimulation tests (clonidine, arginine): three of four patients had insufficient growth hormone responses (peak growth hormone < 10 micrograms/l); all three had delayed puberty; their growth hormone responses increased after "priming" with testosterone, reaching values > 10 micrograms/l in two of them and allowing diagnosis of "true" growth hormone deficiency in the third. The fourth was a normally growing subject who showed a normal growth hormone response both before and after testosterone priming. Six out of the seven subjects showed a growth pattern consistent with delay in growth and puberty. Our results suggest that true XLA/GHD is rarer than previously supposed and that subnormal responses to growth hormone stimulation tests may be found without sex steroid priming of the test in adolescence. The most probable growth pattern in XLA appears to be delay in growth and puberty, as has already been described for other chronic diseases.

Adult↗
PubMed1993

Extensive deletion of immunoglobulin heavy chain constant region genes in the absence of recurrent infections: when is IgG subclass deficiency clinically relevant?

This report describes two children with undetectable serum levels of IgA1, IgG2, IgG4, and IgE due to a homozygous deletion encompassing the A1-E genes. The father is a heterozygous carrier of the same deletion and the mother a heterozygous compound carrying the deletion on one chromosome and duplication on the other. In both children, serum IgG, IgG1, and IgG3 were higher than in normal children and IgG antibody response to tetanus toxoid and polysaccharide antigens was normal with increased IgG1 and IgG3 response compared to controls. The latter can be interpreted as a compensatory mechanism for the subclass deficit and may explain the lack of significant infections in both children. The importance of distinguishing IgG subclass deficiency due to gene deletion from that due to immunoregulatory dysfunction is discussed.

Adolescent↗
PubMed1993

Intravenous immunoglobulin in two children with Guillain-Barré syndrome.

Two children with Guillain-Barrè syndrome were successfully treated with high-dose intravenous immunoglobulin (IVIG) and no relapses occurred over a 1 year follow up. No side-effects were observed. These data provide further evidence that IVIG may be safely and effectively employed in children with Guillain-Barrè syndrome.

Adolescent↗
PubMed1993

The lesson of agammaglobulinemia 40 years after Bruton's discovery.

Forty years after Bruton's discovery, the spectrum of primary defects of immunoglobulins has been largely extended and characterized. An increasingly more accurate recognition of the basic pathogenetic mechanisms of disease has helped to design more effective drugs and therapeutic strategies for patients with both primary and secondary immune deficiencies. In recent years, major advances in molecular biology have allowed characterization of the genetic basis of many primary immunodeficiencies, resulting in more accurate genetic counseling and leading to the first successful application of genetic therapy to the treatment of a human disease.

Agammaglobulinemia↗
PubMed1992

T-cell subpopulations in pediatric healthy children: age-normal values.

Assessment of the percentage and absolute number of T cells as well as of their main subpopulations is presently a routine procedure for the diagnosis and follow-up of a wide array of pediatric immunologic disorders. For several clinical applications (severe immunodeficiencies or leukaemias) the diagnostic usefulness of their enumeration does not require close comparison with age normal values, while in other circumstances such as follow-up of immunomodulating or immunosuppressive treatments or detection of minor immune defects, the expected changes of T cell subsets are more subtile and they are likely to be detected only by comparison with well-defined age normal values. In the present study CD3, CD4 and CD8 positive cells were enumerated in a group of 410 healthy children of age ranging from 30 days to 9 years. No significant changes in percentage or absolute number were observed during infancy and childhood. Furthermore the sum of CD4 and CD8 positive cells was close to the percentage of CD3 positive cells, suggesting a phenotype maturity of T cells from infancy.

CD3 Complex↗
PubMed1992

Immunodeficiency with hyper-IgM (HIM).

Immunodeficiency with hyper-IgM (HIM) is a rare disorder characterized by recurrent infections associated with low IgG and IgA, and normal to increased IgM serum levels. Both primary and secondary forms of HIM syndrome have been reported. Among primary HIM syndrome, evidence for genetic heterogeneity is provided by the occurrence of the disease as X-linked, autosomal recessive, or autosomal dominant trait. The most common clinical manifestations include upper and lower respiratory tract infections, otitis, diarrhoea, oral ulcers, lymphoid hyperplasia, and autoimmunity. Recurrent neutropaenia is a frequent finding. Immunological abnormalities consist of lack of IgG and IgA secretion, and failure to respond to vaccination. Lymph nodes show absence of germinal centres. Few patients with a concurrent T-cell defect, and clinical expression of combined immune deficiency, have been reported. The gene responsible for the X-linked HIM syndrome (HIGM1) has been tentatively assigned to Xq24-27. However, carrier detection and prenatal diagnosis are not yet possible. Pathogenetic hypotheses include failure of B-cell differentiation, and defective regulation of immunoglobulin isotype switching due to abnormal T-cell-mediated signals. Treatment is mainly based upon regular administration of intravenous immunoglobulins. Steroids may be useful in the treatment of neutropaenia and of severe autoimmune manifestations.

Chromosome Mapping↗
PubMed1991

Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.

The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27 beta), in several cell lineages derived from females belonging to a pedigree with X-linked immunodeficiency with hyper-IgM (HIGM1). Non-random X-chromosome inactivation was demonstrated in T cells, B cells, and neutrophils, but not in fibroblasts, of obligate carriers, suggesting that different hematopoietic cell lineages are primarily involved in HIGM1. Preferential inactivation of the paternally derived X-chromosome was demonstrated by analysis of segregation of the alleles defined by the pSPT-PGK and M27 beta probes. The possibility that the HIGM1 mutation may confer a proliferative and/or differential advantage to hematopoietic precursors carrying the mutated allele on the active X-chromosome is discussed.

B-Lymphocytes↗
PubMed1991

HIV-I infection in perinatally exposed siblings and twins. The Italian Register for HIV Infection in Children.

In a multicentre study on perinatal HIV-I infection including 1493 children born from 1471 pregnancies to 1415 infected mothers, 22 twin pairs and 56 sibships (115 children) were recorded. The frequency of twin pregnancies was 1.5 (22/1471) and 3.9% (56/1415) seropositive women had more than one at risk pregnancy. In 18 twin pairs with a known infection status nine of the 36 children (25%) were infected. Discordance in infection status was present in only one (5.5%) dizygous pair. A high relative risk of infection (23.1) in a twin was observed when the other was infected. Infection was unrelated to gestational age, mode of delivery, or birth weight. Infection status was defined in 41 sibships (84 children including one first born twin pair and one third born child). When the first born was infected, 11/26 (42.3%) second born children were also infected, whereas this happened in only 2/16 (12.5%) second or third born children when the first born was uninfected. Two out of nine first born (22.2%) and 5/21 (23.8%) second born children prospectively followed up from birth acquired the infection. Results of this study demonstrate that neither twin nor second pregnancies are at increased risk of mother to child HIV-I transmission. Overall data suggest that non-casual factors in mother and/or child influence perinatal infection.

Diseases in Twins↗
PubMed1990

Screening for delayed-hypersensitivity in Italian children: multicentric study by multitest skin testing.

The Multitest skin test allows the simultaneous intradermal application of seven standardized recall antigens in a reproducible manner. Response reading is based on a scoring system that distinguishes between normal and diminished delayed hypersensitivity (DH). To determine incidence and size of DH responses for each antigen in relation to age and sex in healthy Italian children, a multicentric study was performed on a representative paediatric population of 491 subjects (285 males and 296 females) aged from 4 months to 16 years. In both sexes DH reactivity as measured by score and number of positive responses increased significantly with age. The incidence of anergy was 8.8% for the whole population and decreased significantly with age in both sexes. Incidence of positive responses was highest for tetanus and diphteria toxoids, intermediate for Candida, Proteus and Streptococcus, and lowest for tuberculin and Trichophyton antigens. There was no significant difference between sexes in the incidence of positive response to each antigen.

Adolescent↗
PubMed1990

[Clinico-functional evaluation of flunisolide + salbutamol combination (VAL 679/A) vs salbutamol in pediatric patients].

To establish the effectiveness of flunisolide + salbutamol vs salbutamol alone administered by metered aerosol in the phlogistic obstructive diseases, 18 children were evaluated. The treatments were evaluated on the basis of ventilatory function parameters and of tolerance. The results proved positive for all drugs, though the combination flunisolide + salbutamol produced a greater ventilatory and clinical effect.

Administration, Topical↗
PubMed1989

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.

Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a marker, p212 (DXS178), which has been shown to be closely linked to pXG12 in normal families. No cross-over with XLA was observed in these three families and in five additional families previously analyzed with DXS17 and DXS94 (z = 5.92 at theta = 0). These data provide evidence against genetic heterogeneity in XLA and indicate the value of probe p212 for carrier detection and prenatal diagnosis of XLA. We were able to estimate the carrier status of six females (out of six) in the three previously unreported families.

Agammaglobulinemia↗
PubMed1988

[Sensitization against Parietaria pollen in a group of 1143 patients in the Brescian area].

1143 patients were selected among atopic outpatients followed up at our Institution (Clinical Immunology-University of Brescia) on the basis of documented sensitization to one or more inhalant allergens. All patients had been investigated by skin prick tests employing a large panel of allergens. Specific sensitization had been confirmed by clinical history and when necessary by RAST. The patients were investigated retrospectively for the prevalence of sensitization to Paretaria. 880 patients were sensitized to one or more pollens and among these 427 (48.5) to Parietaria. Among pollen monosensitized patients (with no concomitant allergy to other inhalants), 222 were sensitized to Graminacee and 125 to Parietaria. In these groups there was no difference in prevalence of asthma. Our study thereby shows that the prevalence of sensitization to Parietaria in Brescia is higher than described in other cities in North Italy. Our findings are supported by pollen concentration in atmosphere as determined by Burkard pollen trap.

Adult↗
PubMed1986

IgG2 deficiency and intractable epilepsy of childhood.

Twelve children with intractable childhood epilepsy (ICE) were treated with high-dose intravenous immunoglobulins every 21 days for 6 months after immunologic and neurologic evaluations had been carried out. 50% (6/12) were found to have a deficiency of serum IgG2 and all but 1 of these responded to treatment with marked reduction in the daily number of seizures assessed both clinically and electroencephalographically. The response to treatment was, in fact, significantly higher in the children with IgG2 deficiency than in the others. IgG4 deficiency, observed in 5 children, did not affect treatment response. It is suggested that IgG2 deficiency may predispose to some form of viral encephalitis which may trigger an immune mechanism leading to the ICE.

Child↗
PubMed1985

Recurrent infections with IgG2 deficiency.

An 11 year old girl with retarded growth, recurrent infections, bronchiectasis, and normal serum immunoglobulin concentrations had a combined deficit of the IgG2 subclass and IgG and IgM specific antibodies. Immunoglobulin replacement was followed by clinical improvement. The importance of determining both IgG subclasses and antibody activity in patients with recurrent infections and normal serum immunoglobulin values is emphasised.

Child↗