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Inherited Disorders with Immune Deficiency

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Genetic Diseases of the Skin

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Abstract

Along with advances in genetics, the last two decades have witnessed a very significant upswing in the field of immunology in general and the study of inherited diseases with immune deficiency in particular.

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References

  1. Good, R.A.: Progress toward a cellular engineering. J. Amer. med. Ass. 214, 1289–1300 (1970)

    Article  Google Scholar 

  2. Rosen, F.S., Craig, J.M., Vawter, G., Janeway, C.A.: The dysgammaglobulinemias and X–linked thymic hypoplasia. In: Immunologic deficiency diseases in man. Bergsma, D. (ed.), Vol. IV, No. 1, pp. 67–70. New York: National Foundation 1968

    Google Scholar 

  3. Hoyer, J.R., Cooper, M.D., Gabrielsen, A.H., Good, R.A.: Lymphopenic forms of congenital immunologic deficiency: clinical and pathologic patterns. In: Immunologic deficiency diseases in man. Bergsma, D. (ed.), Vol. IV, No. 1, pp. 91–103. New York: National Foundation 1968

    Google Scholar 

  4. Yount, J., Nichols, P., Ochs, H.D., Hammar, S.P., Scott, C.R., Chen, S.-H, Giblett, E.R., Wedgwood, R.J.: Absence of erythrocyte adenosine deaminase associated with severe combined immunodeficiency. J. Pediat. 84, 113–111 (1974)

    Article  Google Scholar 

  5. Nezelof, C., Jammet, M.-L., Lortholary, P., Labrune, B., Lamy, M.: L’hypoplasie hereditaire du thymus: sa place et sa responsabilite dans une observation d’aplasie lymphocytaire, normoplasmocytaire et normoglobulinemique dunourrisson. Arch, frang. Pediat. 21, 897–920 (1964)

    CAS  Google Scholar 

  6. de Vaal, O. M., Seynhave, V.: Reticular dysgenesis. Lancet 1959 II, 1123–1125

    Article  Google Scholar 

  7. Gitlin, D., Vawter, G., Craig, J. M.: Thymic alymphoplasia and congenital aleukocytosis. Pediatrics 33, 184–192 (1964)

    PubMed  CAS  Google Scholar 

  8. Peterson, R.D.A., Good, R.A.: Ataxia-telangiectasia. In: Immunologic deficiency diseases in man. Bergsma, D. (ed.), Vol. IV, No. 1, pp. 370–377. New York: National Foundation 1968

    Google Scholar 

  9. Cooper, M.D., Chase, H.P., Lowman, J.T., Krivit, W., Good, R.A.: Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Amer. J. Med. 44, 499–513 (1968)

    Article  PubMed  CAS  Google Scholar 

  10. Blaese, R.M., Strober, W., Levy, A.L., Waldmann, T.A.: Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome. A unique disorder of serum protein metabolism. J. clin. Invest. 50, 2331–2338 (1971)

    Article  PubMed  CAS  Google Scholar 

  11. Wells, R.S., Higgs, J.M., McDonald, A., Valdimarsson, H., Holt, P.J.L.: Familial chronic mucocutaneous candidiasis. J. med. Genet. 9, 302–310 (1972)

    Article  PubMed  CAS  Google Scholar 

  12. Valdimarsson, H, Moss, P.D., Holt, P.J.L., Hobbs, J.R.: Treatment of chronic mucocutaneous candidiasis with leukocytes from HL-A compatible sibling. Lancet 19721, 469–472

    Google Scholar 

  13. Spinner, M.W., Blizzard, R.M., Childs, B.: Clinical and genetic heterogeneity in idiopathic Addison’s disease and hypoparathyroidism. J. clin. Endocr. 28, 795–804 (1968)

    Article  PubMed  CAS  Google Scholar 

  14. Ockerman, P. A.: Mannosidosis. In: Lysosomes and storage diseases. Hers, H.G., Van Hoof, F. (eds.), pp. 291–304. New York: Academic Press 1973

    Google Scholar 

  15. Gatti, R.A., Piatt, N., Pomerance, H.H., Hong, R., Langer, L.O., Kay, H.E.M., Good, R.A.: Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short–limbed dwarfism and ectodermal dysplasia. J. Pediat. 75, 675–684 (1969)

    Article  PubMed  CAS  Google Scholar 

  16. Coupe, R.L., Lowry, R.B.: Abnormality of the hair in the cartilage-hair hypoplasia. Dermatologica (Basel) 141, 329–334 (1970)

    Article  CAS  Google Scholar 

  17. Lux, S.E., Johnston, R.B.,Jr., August, C.S., Say, B., Penchaszadeh, V. B., Rosen, F. S., McKusick, V. A.: Chronic neutropenia and abnormal cellular immunity in cartilagehair hypoplasia. New Engl. J. Med. 282, 231–236 (1970)

    CAS  Google Scholar 

  18. Kretschmer, R., August, C.S., Rosen, F.S., Janeway, C.A.: Recurrent infections, episodic lymphopenia and impaired cellular immunity. Further observations on “immunologic amnesia” in two siblings. New Engl. J. Med. 281, 285–290 (1969)

    CAS  Google Scholar 

  19. Carson, M.J., Chadwick, D.L., Brubaker, C.A, Cleland, R.S, Landing, B.H.: Thirteen boys with progressive septic granulomatosis. Pediatrics 35, 405–112 (1965)

    PubMed  CAS  Google Scholar 

  20. Baehner, R.L, Karnovsky, M.L.: Deficiency of reduced nicotinamideadenine dinucleotide oxidase in chronic granulomatous disease. Science 162, 1277–1279 (1968)

    Article  PubMed  CAS  Google Scholar 

  21. Baehner, R.L, Nathan, D.G.: Quantitative nitroblue tetrazolium test in chronic granulomatous disease. New Engl. J. Med. 278, 971–976 (1968)

    CAS  Google Scholar 

  22. Holmes, B, Park, B.H, Malawista, S.E, Quie, P.G, Nelson, D.L, Good, R.A.: Chronic granulomatous disease in females. A deficiency of leukocyte glutathione peroxidase. New Engl. J. Med. 283, 217–221 (1970)

    CAS  Google Scholar 

  23. Curnutte, J.T, Whitten, D.M, Babior, B.M.: Defective superoxide production by granulocytes from patients with chronic granulomatous disease. New Engl. J. Med. 290, 593–597 (1974)

    CAS  Google Scholar 

  24. Lehrer, R.I, Cline, M.J.: Leukocyte myeloperoxidase deficiency and disseminated candidiasis; the role of myeloperoxidase in resistance to Candida infection. J. clin. Invest. 48, 1478–1488 (1969)

    Article  PubMed  CAS  Google Scholar 

  25. Blume, R.S, Wolff, S.M.: The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Med. (Baltimore) 51, 247–280 (1972)

    Article  CAS  Google Scholar 

  26. Davis, S.D, Schaller, J, Wedgwood, R.J.: Job’s syndrome. Recurrent, “cold”, staphylococcal abscesses. Lancet 19661, 1013–1015

    Google Scholar 

  27. Hill, H.R., Ochs, H.D., Quie, P.G, Clark, R. A., Pabst, H.F, Klebanoff, S.J, Wedgwood, R.J.: Defect in neutrophil granulocyte chemotaxis in Job’s syndrome of recurrent “cold” staphylococcal abscesses. Lancet 19741I, 617–619

    Google Scholar 

  28. Miller, M.E, Norman, M.E, Koblenzer, P.J, Schonauer, T.: A new familial defect of neutrophil movement. J. Lab. clin. Med. 82, 1–8 (1973)

    PubMed  CAS  Google Scholar 

  29. Snyderman, E.P, Anderson, J.L, Chen, S.-H, Teng, Y.-S, Cohen, F.: Uridine monophosphate kinase: a new genetic polymorphism with possible clinical implications. Amer. J. hum. Genet. 26, 627–635 (1974)

    Google Scholar 

  30. Lehner, T, Wilton, J. M. A, Ivanyi, L.: Immunodeficiencies in chronic mucocutaneous candidosis. Immunology 22, 775–787 (1972)

    PubMed  CAS  Google Scholar 

  31. Cutting, H.O, Lang, J.E.: Familial benign chronic neutropenia. Ann. intern. Med. 61, 876–887 (1964)

    PubMed  CAS  Google Scholar 

  32. Hahneman, B.M, Alt, H.L.: Cyclic neutropenia in a father and daughter. J. Amer. med. Ass. 168, 270–272 (1958)

    Article  CAS  Google Scholar 

  33. Morley, A.A, Carew, J.P, Baikie, A.G.: Familial cyclical neutropenia. Brit. J. Haemat. 13, 719–738 (1967)

    Article  PubMed  CAS  Google Scholar 

  34. Kostmann, R.: Infantile genetic agranulocytosis (agranulocytosis infantilis hereditaria). A new recessive lethal disease in man. Acta paediat. scand. 105 (Suppl.), 1–78 (1956)

    Google Scholar 

  35. Fanconi, G.: Familial constitutional panmyelocytopathy, Fanconi’s anemia (F.A.). I. Clinical aspects. Sem. Hemat. 4, 233–240 (1967)

    CAS  Google Scholar 

  36. Miller, M.E, Nilsson, U.R.: A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5). New Engl. J. Med. 282, 354–358 (1970)

    CAS  Google Scholar 

  37. Childs, B, Nyhan, W.L, Borden, M Bard, L, Cooke, R.E.: Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics 27, 522–538 (1961)

    CAS  Google Scholar 

  38. Ando, T, Rasmussen, K, Nyhan, W.L, Donnell, G.N, Barnes, N.D.: Propionic acidemia in patients with ketotic hyperglycinemia. J. Pediat. 78, 827–832 (1971)

    Article  PubMed  CAS  Google Scholar 

  39. Constantopoulos, A, Najjar, V.A, Smith, J.W.: Tuftsin deficiency: a new syndrome with defective phagocytosis. J. Pediat. 80, 564–572 (1972)

    Article  PubMed  CAS  Google Scholar 

  40. Constantopoulos, A, Najjar, V.A.: Tuftsin deficiency syndrome. A report of two new cases. Acta paediat. scand. 62, 645–648 (1973)

    Article  PubMed  CAS  Google Scholar 

  41. Beiguelman, B.: Some remarks on the genetics of leprosy resistance. Acta Genet, med. (Roma) 17, 584–594 (1968)

    CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. American University of Beirut and American University Hospital, Beirut, Lebanon

    Vazken M. der Kaloustian M.D. (Associate Professor of Pediatrics)

  2. Division of Dermatology, American University of Beirut and American University Hospital, Beirut, Lebanon

    Amal K. Kurban M.D. (Professor and Head)

Authors
  1. Vazken M. der Kaloustian M.D.
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  2. Amal K. Kurban M.D.
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© 1979 Springer-Verlag Berlin Heidelberg

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der Kaloustian, V.M., Kurban, A.K. (1979). Inherited Disorders with Immune Deficiency. In: Genetic Diseases of the Skin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67152-4_7

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  • DOI: https://doi.org/10.1007/978-3-642-67152-4_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-67154-8

  • Online ISBN: 978-3-642-67152-4

  • eBook Packages: Springer Book Archive

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