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Biomedical subjects

K D Tympner

Publications and source records attributed to K D Tympner.

At least 19 recordsLinked to original sources
PubMed1994

Mulvihill-Smith syndrome: case report and review.

We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.

Abnormalities, Multiple↗
PubMed1992

High- vs low-dose immunoglobulin therapy in the long-term treatment of X-linked agammaglobulinemia.

The data of 29 patients with X-linked agammaglobulinemia, who received immunoglobulin replacement therapy between 1965 and 1990, were analyzed for dose-dependent long-term results concerning infectious complications. Patients who received high-dose intravenous immunoglobulin replacement (greater than 400 mg/kg every 3 weeks) showed a significant increase in trough serum IgG levels and a significant decrease in the incidence of pneumonias and the number of days spent in the hospital compared with patients receiving intravenous immunoglobulin low-dose (less than 200 mg/kg every 3 weeks) or intramuscular immunoglobulin (less than 100 mg/kg every 3 weeks) treatment. Improvements in therapeutic outcome were particularly evident when high-dose intravenous immunoglobulin replacement therapy was started before the age of 5 years. Bacterial meningitis, chronic pulmonary disease, and bronchiectasis occurred in the intramuscular immunoglobulin group but did not occur in either of the intravenous immunoglobulin groups. High-dose intravenous immunoglobulin therapy may have a positive impact on the clinical course and may prevent severe complications in patients with X-linked agammaglobulinemia.

Acute Disease↗
PubMed1984

Specific immunoglobulin A antibodies to a peptide subunit sequence of bacterial cell wall peptidoglycan.

Immunoglobulin A (IgA) antibodies in human sera with binding specificity for the C-terminal R-D-Ala-D-Ala sequence of the precursor peptide from bacterial cell wall peptidoglycan were detected by an enzyme-linked immunosorbent assay (ELISA). Specificity of the test system was proved by comparing the high binding of specific IgA to albumin-(D-Ala3) as an antigen with the failure to bind to albumin-(L-Ala3), by binding inhibition studies with L-Ala3, D-Ala3, or peptides with structural analogy to peptidoglycan peptide subunit peptides as inhibitors, and by excluding binding of peroxidase-labeled anti-human IgA to immunoglobulin classes others than IgA. Interference of rheumatoid factors of IgA class was excluded by an ELISA for assaying IgA-rheumatoid factor and by the fact that an IgA fraction essentially free of IgG and IgM was isolated from a serum reacting strongly positive in the ELISA for measuring specific IgA to the peptide subunit of peptidoglycan. This isolated IgA again exhibited binding specificity in the ELISA, thus corroborating the existence of specific IgA in human serum to the C-terminal R-D-Ala-D-Ala sequence of peptidoglycan precursor peptide. The existence of IgA antibodies with specificity for bacterial peptidoglycan was further proved by preadsorption of serum to peptidoglycans and subsequent measurement of specific IgA in the ELISA. Screening of human sera for IgA antibodies with specificity for R-D-Ala-D-Ala peptides revealed that specific antibodies directed against this sequence of bacterial cell wall peptidoglycan may be detected in several human sera.

Adult↗
PubMed1978

[Progressive combined immunity defect with ectomesodermal dysplasia (author's transl)].

A boy with dysplastic features had to be treated for recurrent diarrhoea and bronchitis since his tenth month of life. Defects in humoral and cellular immunity were found. The ecto-mesodermal abnormalities are so characteristic that in connection with the immunological changes it seems to be justified to assume a yet undescribed syndrome.

Antibody Formation↗
PubMed1977

[Agammaglobulinemia and secretory IgA (author's transl)].

After serum IgA has been intravenously administered, it appears immediately in secretions, sputum, and urine. At about the same time, a mechanism is employed which leads to the concentration of IgA in the sputum. In urine, 7sIgA and SC were separately eliminated; a linkage with 11sIgA did not occur. Similar relationships are probably present in the sputum, but exact proof could not be provided. By administrating immunoglobulin concentrates which contain IgA in 7s-serum form, the IgA concentration in external secretions can be raised; replacing the physiological 11s-IgA however, is not possible. The extent to which 7sIgA can take over the function of 11sIgA in these secretions has not yet been clarified. In this connection, the use of local 11sIgA inhalation therapy rather than ultrasound atomazation seems to be well founded theoretically and also promising. Whether such therapy can be carried out practically and is successful remains to be seen.

Adolescent↗
PubMed1976

[Generalized progressive vaccinia in a child with primary humoral and cellular immunodeficiency (author's transl)].

A case of generalized progressive vaccinia with lethal outcome after smallpox vaccination observed in an 8 months old girl during 1968 is reported. This complication was the first sign of an underlying immune deficiency in this child. The most conspicious findings suggesting a humoral immune defect were an absent serum IgM in combination with decreased IgA and IgG levels. An additional cellular defect was suggested by a generalized hypoplasia of the thymus and the entire lymphatic system as shown during autopsy. Vaccinia virus could be found not only in skin eruptions intra vitam but also in lung, liver and brain tissue in post mortem studies.

Autopsy↗
PubMed1975

[Age-dependence of the complement (beta 1A/C) serum concentration in healthy children (author's transl)].

In 496 sera of healthy children(cord blood, newborn infants, children up to 10 years of age) complement (C'3) was determined quantitatively by single radial immunodiffusion technique. Higher values are found in cord blood as compared to newborns during the first days of life. Adult levels are reached in infants aged 12 to 36 months. Complement is produced in excess. Normal concentrations do not necessarily exclude a pathologic situation. Abnormally high or low levels of complement (C'3) in the serum may point at pathologic processes. However, single determinations are of pathognomonic value only when low concentrations are found. Age dependency of C'3-levels in children has to be kept in mind when used for diagnosis.

Age Factors↗