Summary
In a sibship of ten children descending from a first cousin's marriage, two sibs were affected by Kartagener's syndrome with the typical symptoms of situs inversus, bronchiectasis, and polyposis nasi. Clinical investigation of the entire family revealed chronic infections of the paranasal sinus in five sibs and the mother, two of whom had bronchiectasis as well. Immunologically, a persistent cellular or humoral defect could not be detected in any of the family members. In the HLA system, only the two sibs with Kartagener's syndrome had identical HLA types; all other family members had different combinations. A linkage between the loci for the HLA system and Kartagener's syndrome is discussed.
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Bertrams, J.: HLA-Antigene und Krankheitsempfänglichkeit. Dtsch. Med. Wochenschr. 101, 178–184 (1976)
Cervino, O. A., Chieri, P. de, Delbue, C.: Sindrome de Kartagener. Prensa Med. Argent. 60, 547–549 (1974)
Collier, M. M.: Constatations ophthalmologiques dans le syndrome de Kartagener. Bull. Mem. Soc. Fr. Ophtalmol. 74, 429–447 (1961)
Cummins, H., Midlo, C.: Finger prints, palms and soles. An introduction to dermatoglyphics. New York: Dover 1961
Dausset, J., Svejgaard, A.: HLA and disease. Copenhagen: Munksgaard 1977
Egbert, B. M., Schwartz, E., Kempson, R. L.: Kartagener syndrome. Report of a case with mesangiocapillary glomerulonephritis. Arch. Pathol. Lab. Med. 101, 95–99 (1977)
Glick, J. D., Graubert, D. M.: Kartagener's syndrome and schizophrenia: A report of a case with chromosomal studies. Am. J. Psychiatry 121, 603–605 (1964)
Guenther, H.: Die biologische Bedeutung der Inversionen. Biol. Zentralbl. 43, 175–213 (1923)
Hartline, J. V., Zelkowitz, P. S.: Kartagener's syndrome in childhood. Am. J. Dis. Child. 121, 349–352 (1971)
Heukenkamp, P.-U., Marshall, M., Meier, J., Parrisius, G., Zöllner, N.: Das Kartagener-Syndrom. Mitteilung von vier Fällen und kritische Würdigung des sinubronchialen Syndroms. Dtsch. Med. Wochenschr. 97, 1458–1461 (1972)
Heyne, K., Beckert, R.: Beitrag zum familiären Kartagener-Syndrom. Z. Erkr. Atmungsorgane 134, 141–148 (1971)
Holmes, L. B., Blennerhassett, J. B., Austen, K. F.: A reappraisal of Kartagener's syndrome. Am. J. Med. Sci. 255, 13–28 (1968)
Imperato, P. J., Palanca, L. M., Fernandez, J. P.: Successful treatment with the mucolytic agent acetylcysteine. Am. Rev. Respir. Dis. 90, 111–115 (1964)
Kartagener, M.: Zur Pathogenese der Bronchiektasien. I. Mitteilung: Bronchiektasien bei Situs viscerum inversus. Beitr. Klin. Tuberk. 83, 489–501 (1933)
Kartagener, M.: Bronchiektasien bei Situs viscerum inversus. Praxis 57, 622–623 (1968)
Kartagener, M., Gruber, M.: Bronchiektasien und Dilatationen anderer glandulärer und kavitärer Organe. Schweiz. Z. Pathol. Bakt. [Suppl.] 10, 36 (1947)
Kartagener, M., Horlacher, A.: Bronchiektasien bei Situs viscerum inversus. Schweiz. Med. Wochenschr. 16, 782–784 (1935)
Kartagener, M., Mülly, K.: Bronchiektasien bei Situs viscerum inversus. Schweiz. Z. Tuberk. 13, 166–191 (1956)
Kartagener, M., Stucki, P.: Bronchiectasis with situs inversus. Arch. Pediatr. 79, 193–207 (1962)
Katsuhara, K., Kawamoto, S., Wakabayashi, T., Belsky, J. L.: Situs inversus totalis and Kartagener's syndrome in a Japanese population. Chest 61, 56–61 (1972)
Lake, K., Sharma, O. P.: Kartagener's syndrome and deaf-mutism: An unusual association. Chest 64, 661–663 (1973)
Lichtenstein, J. R.: Kartagener syndrome in sibs. Birth Defects: Orig. Art. Ser. VIII/5, 223–225 (1972)
Logan, W. D., Jr., Abbott, O. A., Hatcher, Ch. R., Jr.: Kartagener's triad. Dis. Chest 48, 613–616 (1965)
Oeri, R.: Zur Kasuistik des Situs viscerum inversus totalis. Frankf. Z. Pathol. 3, 393–397 (1909)
Schettler, G., Klink, O.: Situs viscerum inversus totalis, mit Bronchiektasen, Polyposis nasi und Gefäßmißbildungen am Augenhintergrund. Ärztl. Wochenschr. 4, 215–216 (1949)
Segal, P., Kikiela, M., Mrzyglod, S., Zeromska-Zbierska, I.: Kartagener's syndrome with familial eye changes. Am. J. Ophthalmol. 55, 1043–1049 (1963)
Sharma, O.: Kartagener's syndrome. Immunological studies. N.Y. State J. Med. 72, 1057 (1972)
Shimada, K., Nakajiama, A., Shimokawahara, H., et al.: The pancreatic function in Kartagener's syndrome: A case report. Acta Med. (Univ. Kagoshima) 15, 163–178 (1973)
Siebner, H., Flach, A.: Chromosomenbefunde bei der Kartagenerschen Trias. Mschr. Kinderheilk. 112, 465–466 (1964)
Siewert, A. K.: Russkij Wratsch 1361 (1902) (cited by Kartagener, 1968)
Siewert, A. K.: Über einen Fall von Bronchiectasie bei einem Patienten mit Situs inversus viscerum. Berl. Klin. Wochenschr. 41, 139–141 (1904)
Stauffer, U. G.: Ein Fall von Bronchiektasen bei Situs viscerum inversus (Kartagenersches Syndrom). Beitr. Klin. Tuberk. 135, 15–26 (1967)
Tendler, H., Schaarschmidt, G.: Kongenitale Bronchiektasie bei Situs inversus. Z. Erkr. Atmungsorgane 137, 161–166 (1972)
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Rott, H.D., Warnatz, H., Pasch-Hilgers, R. et al. Kartagener's syndrome in sibs: Clinical and immunologic investigations. Hum Genet 43, 1–11 (1978). https://doi.org/10.1007/BF00396472
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DOI: https://doi.org/10.1007/BF00396472