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Pathologie des Thymus pp 91–111Cite as

Kongenitale Defektimmunopathien Immunmangel-Syndrome

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Zusammenfassung

Zu den Abwehrsystemen des menschlichen Organismus gehören die natürliche Resistenz, das unspezifische, myelo-monozytäre Immunsystem und das spezifische, klonal organisierte Immunsystem.

Es gibt… kaum eine Behauptung, die nicht auf Erfahrungen gegründet und wieder durch Erfahrungen widerlegt wäre. Unter diesen Umständen wird man der Theorie raten, zu warten, bis die Erfahrungen reifer sind; aber ich glaube vielmehr, daß die Erfahrungen, um zu reifen, des Lichtes einer vernünftigen Theorie bedürfen.

Jacob Henle 1840

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Bibliography

  1. Adkins WY, Gussen R (1974) Temporal bone findings in the third and fourth pharyngeal pouch (Di George) syndrome. Arch Otolaryngol 100: 206–208

    PubMed  Google Scholar 

  2. Aldrich RA, Steinberg A, Campbell DC (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13:133–138

    CAS  Google Scholar 

  3. Amman AJ (1987) Immunodeficiency diseases. In: Stites DP, Stobo JD, Wells JV (eds) Basic and clinical immunology, 6th edn. Appleton & Lange, Norwalk, Connecticut, pp 317–355

    Google Scholar 

  4. Barth RF, Vergara GG, Khurana SK, Lowman JT (1972) Rapidly fatal familial histiocytosis associated with eosinophilia and primary immunological deficiency. Lancet I: 503–506

    Google Scholar 

  5. Belohradsky BH (1985) Thymusaplasie und -hypoplasie mit Hypoparathyreoidismus, Herz- und Gefäßmißbildungen (Di George-Syndrom). Ergb Inn Med Kinderheilkd 54: 35–105

    Google Scholar 

  6. Bienenstock J, McDermott M, Befus AD, O’Neill M (1978) A common mucosal immunologic system involving the bronchus, breast and bowel. In: McGhee JR, Mestecky J, Babb JL (eds) Secretory immunity and infection. Plenum Press, New York, pp 53–66

    Google Scholar 

  7. Black OF, Spanier SS, Kohut RI (1975) Aural abnormalities in partial DiGeorge syndrome. Arch Otolaryngol l01: 129–134

    Google Scholar 

  8. Blaese RM, Strober W, Brown RS, Waldmann TA (1968) The Wiskott-Aldrich syndrome: A disorder with a possible defect in antigen processing or recognition. Lancet I 1056–1061

    Google Scholar 

  9. Blaese RM, Strober W, Levy AL, Waldmann TA (1971) Hypercatabolism of IgG, IgA, IgM and albumin in the Wiskott-Aldrich syndrome. J Clin Invest 50: 2331–2338

    CAS  PubMed Central  PubMed  Google Scholar 

  10. Blaese RM, Strober W, Waldmann TA (1975) Immunodeficiency in the Wiskott-Aldrich syndrome. Birth Defects 11: 250–254

    CAS  PubMed  Google Scholar 

  11. Boder E (1975) Ataxia-teleangiectasia: Some historic, clinical, and pathologic observations. Birth Defects 11: 255–270

    CAS  PubMed  Google Scholar 

  12. Boder E, Sedgwick RP (1958) Ataxia-teleangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous teleangiectasia and frequent pulmonary infection. Pediatrics 21: 526–554

    CAS  PubMed  Google Scholar 

  13. Boder E, Sedgwick RP (1963) Ataxia-teleangiectasia: A review of tot cases. In: Walsh G (ed) Cerebellum posture and cerebral palsy, Vol 8, pp no-118. Little Club Clin Develop Med, National Spastics Society, Medical, Education and Information Unit, London

    Google Scholar 

  14. Borzy MS, Schulte-Wissermann H, Gilbert E, Horowitz SD, Pellett J, Hong R (1979) Thymic morphology in immunodeficiency diseases: Results of thymic biopsies. Clin Immuol Immunopathol 12: 31–51

    CAS  Google Scholar 

  15. Brand MM, Marinkovich VA (1969) Primary malignant reticulosis of the brain in WiskottAldrich-syndrome. Report of a case. Arch Dis Childh 44: 536–542

    CAS  PubMed  Google Scholar 

  16. Broder S, Uchiyama T, Waldmann TA (1979) Neoplasms of immunoregulatory cells. Am J Clin Pathol 72: 724–731

    CAS  PubMed  Google Scholar 

  17. Burnet M (1961) The immunological recognition of self. Science 133: 307

    CAS  PubMed  Google Scholar 

  18. Burnet M (1970) The concept immunological surveillance. Prog Exp Tumor Res 13: 1–27

    CAS  PubMed  Google Scholar 

  19. Carbonari M, Cherchi M, Paganelli R, Giannini G, Galli E, Gaetano C, Papetti C, Fiorilli M (1990) Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-teleangiectasia. N Engl J Med 322: 73–76

    CAS  PubMed  Google Scholar 

  20. Chandra RK, Cooper MD, Hitzig WH, Rosen FS, Seligmann M, Soothill JF, Terry RJ (1979) Immunodeficiency. Report of a WHO Scientific Group. Clin Immunol Immunopathol 13: 296–359

    Google Scholar 

  21. Conley ME, Ziegler MM; Borden S, Huff DS, Boyle JT (1988) Multifocal adenocarcinoma of the stomach in a child with common variable immunodeficiency. J Pediatr Gastroenterol Nutr 7: 456–460

    CAS  PubMed  Google Scholar 

  22. Cooper MD, Butler JL (1989) Primary immunodeficiency diseases. In: Paul WE (ed) Fundamental immunology, 2nd edn. Raven Press Ltd, New York, pp 1033–1057

    Google Scholar 

  23. Cooper MD, Chase HP, Lowman JT, Krivit W, Good RA (1968 a) Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Am J Med 44: 499–513

    CAS  Google Scholar 

  24. Cooper MD, Perrey DY, Peterson RDA, Gabrielsen AE, Good RA (1968b) The two-component concept of the lymphoid system. In: Bergsma D, Good RA (eds) Immunologic deficiency diseases in man. US Natl Found Original Article Series IV, pp 7–12

    Google Scholar 

  25. Cooper MD, Keightley RG, Wu L-Y, Lawton AR (1973) Developmental defects of T and B cell lines in humans. Transplant Rev 16: 51–84

    CAS  PubMed  Google Scholar 

  26. Cottier H (1957) Zur Histopathologie des Antikörpermangelsyndroms. Trans 6th Congr Europ Soc Haematol. Copenhagen, pp 41–46

    Google Scholar 

  27. Cottier H (1980) Pathogenese, Bd 2. Springer, Berlin Heidelberg New York

    Google Scholar 

  28. Cottier H, Kraft R, Meister F (1991) Primary immunodeficiency syndromes and their manifestations in lymph nodes. Curr Top Pathol 84/2: 81–155

    PubMed  Google Scholar 

  29. Cunningham-Rundles C (1989) Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol 9: 22–33

    CAS  Google Scholar 

  30. Cunningham-Rundles C, Siegal FP, Cunningham-Rundles S, Lieberman P (1987) Incidence of cancer in 98 patients with common variable immunodeficiency. J Clin Immunol 7: 294–299

    CAS  Google Scholar 

  31. DeVaal OM, Seynhave V (1959) Reticular dysgenesia. Lancet II: 1123–1125

    Google Scholar 

  32. Di George AM (1965) A new concept of the cellular basis of immunity. J Pediatr 67: 907–908

    Google Scholar 

  33. Di George AM (1968) Congenital absence of the thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism. Birth Defects 4:116–121

    Google Scholar 

  34. Donner M, Schwartz M, Carlsson KU, Holmberg L (1988) Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood 72: 1849–1853

    CAS  PubMed  Google Scholar 

  35. Dunn HG, Meuwissen H, Liningstone CS, Pump KK (1964) Ataxia-teleangiectasia. Can Med Massoc J 91: 1106–1117

    CAS  Google Scholar 

  36. Durham JC, Stephens DS, Rimland D, Nassar VH, Spira TJ (1987) Common variable hypogammaglobulinemia complicated by an unusual T-suppressor/cytotoxic cell lymphoma. Cancer 59: 271–276

    CAS  PubMed  Google Scholar 

  37. Eskola J, Savilahti E, Nikoskelainen J, Ruuskanen O (1989) Regulatory T-cell function in primary humoral immunodeficiency states. J Clin Lab Imunol 28: 55–60

    CAS  Google Scholar 

  38. Fischer A, Griscelli C, Friedrich W, Kuanek B, Levinsky R, Morgan G, Vossen J, Wagemaker G, Landias P (1986) Bone marrow transplantation for immunodeficiencies and osteopetrosis: European survey,1968–1985. Lancet 1080–1084

    Google Scholar 

  39. Fischer A, Landais P, Friedrich W, Morgan G, Gerritsen B, Fasth A, Porta F, Griscelli C, Goldman SF, Levinsky R (1990) European experience of bone-marrow transplantation for severe combined immunodeficiency. Lancet 850–854

    Google Scholar 

  40. Forsyth K, Matthews C, Seshadri R, Heddle R (1988) Wiskott-Aldrich syndrome in identical twins: abnormality of CD4 and CD8 positive lymphocytes. Aust NZ J Med 18: 73–76

    CAS  Google Scholar 

  41. Freedom RM, Rosen FS, Nadas AS (1972) Congenital cardiovascular disease and anomalies of the third and fourth paryngeal pouch. Circulation 46: 165–172

    CAS  PubMed  Google Scholar 

  42. Gatti RA, Good RA (1971) Occurrence of malignancy in immunodeficiency diseases. Cancer 28: 89–98

    CAS  PubMed  Google Scholar 

  43. Gatti RA, Gershanik JJ, Levkoff AH, Wertelecki W, Good RA (1972) Di George syndrome associated with combined immunodeficiency: Dissociation of phytohemagglutinin and mixed leukocyte culture responses. J Pediatr 81: 920–926

    CAS  PubMed  Google Scholar 

  44. Gatti RA, Gershanik JJ; Levkoff AH, Wertelecki W, Good RA (1973) Combined system immunodeficiency with Di George syndrome and dissociation of PHA/MCC responses. Adv Exp Med Biol 29: 327–336

    CAS  PubMed  Google Scholar 

  45. German J (1995) Bloom’s syndrome. Dermatol Clin 13: 7–18

    CAS  PubMed  Google Scholar 

  46. Gerritsen EJA, Berg H van den, Langlois van den Berg R, Schellekens PTA, Tol MJD van, Dooren LJ,Vossen JM (1988) Gecombineerde immunologische deficientie. Tijdschr Kindergeneeskd 56: 196–205

    CAS  Google Scholar 

  47. Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ (1972) Adenosinedeaminase defi- ciency in two patients with severely impaired cellular immunity. Lancet II: 1067–1069

    Google Scholar 

  48. Giblett ER, Ammann AJ, Wara DW, Sandman R, Diamond LK (1975) Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet I: l010–1013

    Google Scholar 

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

    CAS  Google Scholar 

  50. Glanzmann E, Riniker P (1950) Essentielle Lymphocytophthise. Wien Med Wochenschr 100: 35–36

    Google Scholar 

  51. Gönczy P, Reith W, Barras E, Lisowska-Grospierre B, Griscelli C, Hadam MR, Mach B (1989) Inherited immunodeficiency with a defect in a major histocompatibility complex class II promotor-binding protein differs in the chromatin structure of the HLA-DRA gene. Mol Cell Biol 9: 296–302

    Google Scholar 

  52. Good RA (1972) Relations between immunity and malignancy. Proc Natl Acad Sci (USA) 69: 1026–1032

    CAS  Google Scholar 

  53. Good RA, Cooper MD, Peterson RDA (1966) The role of the thymus in immune process. Ann NY Acad Sci 135: 451–478

    CAS  PubMed  Google Scholar 

  54. Gosseye S, Nezelof C (1981) T system immunodeficiencies in infancy and childhood. Pathol Res Pract 171: 142–158

    CAS  PubMed  Google Scholar 

  55. Greenberg F, Elder FFB, Haffner P, Northrup H, Ledbetter DH (1988) Cytogenetic findings in a prospective series of patients with Di George anomaly. Am J Hum Genet 43: 605–611

    CAS  PubMed Central  PubMed  Google Scholar 

  56. Griscelli C, Lisowska-Grospierre B (1989) Combined immunodeficiency with defective expression in MHC class II genes. Immunodeficiency Rev 1: 135–153

    CAS  Google Scholar 

  57. Griscelli C, Lisowska-Grospierre B, Le Deist F, et al. (1989) Combined immunodeficiency with abnormal expression of MHC class II genes. Clin Immunol Immunopathol 50: S140–S148

    CAS  PubMed  Google Scholar 

  58. Harland C, Shah T, Webster AD, Peters TJ (1988) Dipeptidyl peptidase IV - subcellular localization, activity and kinetics in lymphocytes from control subjects, immunodeficient patients and cord blood. Clin Exp Immunol 74: 201–205

    CAS  PubMed Central  PubMed  Google Scholar 

  59. Hecht F, Hecht BK (1987) Chromosome changes connect immunodeficiency and cancer in ataxia-teleangiectasia. Am J Pediatr Hematol Oncol 9:185–188

    CAS  PubMed  Google Scholar 

  60. Heremans JF (1975) The secretory immune system: A critical appraisal. In: Neter E, Milgram F (eds) The immune system and infectious disease. Karger, Basel, pp 91–100

    Google Scholar 

  61. Hess MW (1970) Lymphatischer Apparat, insbesondere Thymus, in der Pathogenese der Defektimmunopathien. In: Studer A, Cottier H (Hrsg) Handbuch der allgemeinen Pathologie, Bd VII/3: Immunreaktionen. Springer, Berlin Heidelberg New York, S 182–236

    Google Scholar 

  62. Hess MW, Schädeli J, Cottier H (1971) Pathogenese and Pathomorphologie kindlicher Immunopathien. Verh Dtsch Ges Pathol 55: 175–189

    CAS  PubMed  Google Scholar 

  63. Heymer B, Niethammer D, Haas R, Meister H, Haferkamp O (1976) Pathomorphologic findings in severe combined immunodeficiency and reticular dysgenesia. Virchows Arch [Pathol Anatl 370: 151–162

    CAS  Google Scholar 

  64. Hirschhorn R, Ellenbogen A (1986) Genetic heterogeneity in adenosine deaminase (ADA) deficiency: Five different mutations in five new patients with partial ADA deficiency. Am J Hum Genet 38: 13–25

    CAS  PubMed Central  PubMed  Google Scholar 

  65. Hitzig WH (1974) Immunmangel-Krankheiten. Pathophysiologie und Klinik. In: Schwiegk H (Hrsg) Handbuch der inneren Medizin, Bd VII/I. Springer, Berlin Heidelberg New York, S 681–760

    Google Scholar 

  66. Hitzig WH, Barandun S, Cottier H (1968) Die schweizerische Form der Agammaglobulinämie. Ergeb Inn Med Kinderheilk 27: 79–154

    CAS  Google Scholar 

  67. Hong R, Horowitz SD, Borzy MF, Gilbert EF, Arya S, McLeod N, Peterson RDA (1981) The cerebro-hepato-renal syndrome of Zellweger: Similarity to and differentiation from the Di George syndrome. Thymus 3: 97–104

    CAS  PubMed  Google Scholar 

  68. Incefy GS, Flomenberg N, Heller G, Kernan NA, Brochstein J, Kirkpatrick D, Kapoor N, Groshen S, O’Reilly RJ (1990) Evidence that appearance of thymulinin plasma follows lymphoid chimerism and precedes development in immunity in patients with lethal combined - immunodeficiency transplanted with T cell-depleted haploidentical marrow. Transplantation 50: 55–61

    CAS  PubMed  Google Scholar 

  69. Janeway ChA (1968) Progress in immunology: Syndromes of diminished resistance to infection. J Pediatr 72: 885–903

    CAS  PubMed  Google Scholar 

  70. Kaneko H, Inoue R, Yamada Y, Sukegawa K, Fukao T, Tashita H, Teramoto T, Kasahara K, Takami T, Kondo N (1996) Microsatellite instability in B-cell lymphoma originating form Bloom syndrome. Int J Cancer 20: 480–483

    Google Scholar 

  71. Keppen LD, Fasules JW, Burks AW, Gollin SM, Sawyer JR, Miller CH (1988) Confirmation of autosomal dominant transmission of the Di George malformation complex. J Pediatr 113: 506–508

    CAS  PubMed  Google Scholar 

  72. Kersey JH, Spector BD, Good RA (1973a) Primary immunodeficiency diseases and cancer: The immunodeficiency-cancer-registry. Int J Cancer 12: 333–347

    CAS  Google Scholar 

  73. Kersey JH, Spector BD, Good RA (1973b) Immunodeficiency and cancer. Adv Cancer Res 18: 211–230

    CAS  Google Scholar 

  74. Kersey JH, Shapiro RS, Filipovich AH (1988) Relationship of immunodeficiency to lymphoid malignancy. Pediatr Infect Dis J 7:104–112

    Google Scholar 

  75. Knutsen AP, Rosse WF, Kinney ThS, Buckley RH (1981) Immunologic studies before and after splenectomy in a patient with Wiskott-Aldrich syndrome. J Clin Immunol 1:13–19

    CAS  Google Scholar 

  76. König R (1997) CATCH 22. Kinderarzt 28: 43–48

    Google Scholar 

  77. Kretschmer R, Say B, Brown D (1978) Congenital aplasia of the thymus gland (Di George’s syndrome). N Engl J Med 279: 1295–1301

    Google Scholar 

  78. Kuhn EM, Therman E (1986) Cytogenetics of Bloom’s syndrome. Cancer Genet Cytogenet 22: 1–18

    CAS  PubMed  Google Scholar 

  79. Lamvik J, Moe PJ (1969) Thymic dysplasia with immunological deficiency. Acta Pathol Microbiol Scand 76: 349–360

    CAS  PubMed  Google Scholar 

  80. Larocca LM, Lauriola L, Ranelletti OF, Piantelli M, Maggiano N, Ricci R, Capelli A (1990) Morphological and immunohistochemical study of Down syndrome thymus. Am J Med Genet 7 (Suppl): 225–230

    CAS  Google Scholar 

  81. Larocca LM, Piantelli M, Valitutti S, Castellino F, Maggiano N, Musiani P (1988) Alterations in thymocyte subpopulations in Down’s syndrome (Trisomy 21) Clin Immunol Immunopathol 49: 175–186

    CAS  PubMed  Google Scholar 

  82. Lau YL, Levinsky RJ (1988) Prenatal diagnosis and carrier detection in primary immunodeficiency disorders. Arch Dis Child 63: 758–764

    CAS  PubMed  Google Scholar 

  83. Le PT, Vollger LW, Haynes BF, Singer KH (1990) Ligand binding to the LFA-3 cell adhesion molecule induces IL-1 production by human thymic epithelial cells. J Immunol 144: 4541–4547

    CAS  PubMed  Google Scholar 

  84. Levy Y, Hershfield MS, Fernandez-Mejia C, Polmar SH, Scudiery D, Berger M, Sorensen RU (1988) Adenosine deaminase deficiency with late onset of recurrent infections: Response to treatment with polyethylene glycol-modified adenosine deaminase. J Pediatr 113: 312–317

    CAS  PubMed  Google Scholar 

  85. Lischner HW (1972) Di George syndrome(s). J Pediatr 81: 1041–1044

    Google Scholar 

  86. Lischner HW, Di George AM (1969) Role of the thymus in humoral immunity: Observations in complete or partial congenital absence of the thymus. Lancet 1044–1049

    Google Scholar 

  87. Lischner HW, Dacou C, Di George AM (1967a) Normal lymphocyte transfer (NLT) test: Negative response in a patient with congenital absence of the thymus. Transplantation 5: 555–557

    CAS  Google Scholar 

  88. Lischner HW, Punnett HR, Di George AM (1967b) Lymphocytes in congenital absence of the thymus. Nature (Lond) 214: 580–582

    Google Scholar 

  89. Louis-Bar D (1941) Sur un syndrome progressif comprenant des teleangiectasies capillaires cutanees et conjuctivales symmetriques, a disposition naevoide et de troubles cerebelleux. Confin Neurol (Basel) 4: 32–42

    Google Scholar 

  90. Lum LG, Tubergen DG, Carcish L, Blaese RM (1980) Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. New Engl J Med 302: 892–896

    CAS  PubMed  Google Scholar 

  91. MacFarlin DE, Strober W, Waldmann TA (1972) Ataxia-teleangiectasia. Medicine 51: 281–314

    Google Scholar 

  92. Markert ML, Hershfield MS, Wiginton DA et al. (1987) Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. J Immunol 138: 3203–3206

    CAS  PubMed  Google Scholar 

  93. McKusick VA, Cross HE (1966) Ataxia-teleangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships. J Am Med Ass 195: 739–745

    CAS  Google Scholar 

  94. Miller JFAP, Dukor P (1964) Die Biologie des Thymus nach dem heutigen Stande der Forschung. Akademische Verlagsgesellschaft, Frankfurt

    Google Scholar 

  95. Müller-Hermelink HK, Müller J (1991) Die angeborenen Immundefekte. Verh Dtsch Ges Pathol 75: 32–50

    PubMed  Google Scholar 

  96. Murphy M, Friend DS, Pike-Nobile L, Epstein LB (1992) Tumor necrosis factor-alpha and interferon-gamma expression in human thymus: localization and overexpression in Down syndrome. J Immunol 149: 2506–2512

    CAS  PubMed  Google Scholar 

  97. Murphy M, Insoft RM, Pike-Nobile L, Derbin KS, Epstein LB (1993) Overexpression of LFA-1 and ICAM-1 in Down syndrome thymus. J Immunol 150: 5696–5703

    CAS  PubMed  Google Scholar 

  98. Nezelof C (1968) Thymic dysplasia with normal immunoglobulins and immunologic deficiency: Pure alymphocytosis. Birth Defects 4:104–112

    Google Scholar 

  99. Nezelof Ch (1986) Pathology of the thymus in immunodeficiency states. Curr Top Pathol 75: 151–177

    CAS  PubMed  Google Scholar 

  100. Nezelof C, Jammet ML, Lortholary P, Labrune B, Lamy M (1964) L’hypoplasia hereditaire du thymus. Sa place et sa responsabilite dans une observation d’aplasie lymphocytaire normo-plasmocytaire et normoglobulinemique du nourrisson. Arch Fr Pediatr 21: 897–920

    CAS  PubMed  Google Scholar 

  101. Ochs HD, Slichter SJ, Harker LA, Behrens WE von, Clark RA, Wedgwood RJ (1980) The Wiskott-Aldrich syndrome: Studies of lymphocytes, granulocytes and platelets. Blood 55: 243–252

    CAS  PubMed  Google Scholar 

  102. Omenn GS (1965) Familial reticuloendotheliosis with eosinophilia. N Engl J Med 273: 427–432

    CAS  PubMed  Google Scholar 

  103. Oppenheim JJ, Blaese RM, Waldmann TA (1970) Defective lymphocyte transformation and delayed hypersensitivity in Wiskott-Aldrich syndrome. J Immunol 104: 835–844

    CAS  PubMed  Google Scholar 

  104. Ownby DR, Pizzo S, Blackmon L, Gall SA, Buckley RH (1976) Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: Immunologic and histopathologic findings. J Pediatr 89: 382–387

    CAS  PubMed  Google Scholar 

  105. Pachman LM, Lynch PA, Silver RK, Ozog DL, Poznanski AK (1989) Primary immunodeficiency disease in children: An update. Curr Probl Pediatr 19: 1–64

    CAS  PubMed  Google Scholar 

  106. Page AR, Hansen AE, Good RA (1963) Occurrence of leukemia and lymphoma in patients with agammaglobulinemia. Blood 21:197–261

    CAS  PubMed  Google Scholar 

  107. Pallant A, Eskenazi A, Maffei M-G, Fournier REK, Carlsson SR, Fukuda M, Frelinger JG (1989) Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16. Proc Natl Acad Sci USA 86: 1328–1332

    CAS  PubMed  Google Scholar 

  108. Perry GS, Spector BD, Schuman LM, Mandel JS, Anderson VE, McHugh RB, Hanson MR, Fahlstrom SM, Krivit W, Kersey JH (1980) The Wiskott-Aldrich syndrome in the United States and Canada (1892–1979). J Pediatr 97: 72–78

    PubMed  Google Scholar 

  109. Peter HH (1991) Immunologische Defektsyndrome. In: Gemsa D, Kalden JR, Resch K (Hrsg) Immunologie. Grundlagen - Klinik - Praxis. Thieme, Stuttgart New York, S 300–321

    Google Scholar 

  110. Peterson RDA, Kelly WD, Good RA (1964) Ataxia-teleangiectasia. Its association with a defective thymus, immunological deficiency and malignancy. Lancet 1189–1193

    Google Scholar 

  111. Purtilo DT (1981) Malignant lymphoproliferative diseases induced by Epstein-Barr virus in immunodeficient patients, including X-linked, cytogenetic, and familial syndromes. Review article. Cancer Genet Cytogenet 4: 251–268

    CAS  PubMed  Google Scholar 

  112. Radford DJ, Perkins L, Lachman R, Thong YH (1988) Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome. Pediatr Cardiol 9: 95–101

    CAS  PubMed  Google Scholar 

  113. Radl J, Dooren LJ, Morell A, Skvaril F, Vossen MJJ, Vittenbogaart CH (1976) Immunoglobulins and transient paraproteins in sera of patients with the Wiskott Aldrich syndrome: A follow-up study. Clin Exp Immunol 25: 256–263

    CAS  PubMed Central  PubMed  Google Scholar 

  114. Ratech H, Greco MA, Gallo G, Rimoin DL, Kamino H, Hirschorn R (1985) Pathologic findings in adenosine-deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol 120: 157–169

    CAS  PubMed  Google Scholar 

  115. Reith W, Satola S, Sanchez CH, Amaldi J, Lisowska-Grospierre B, Griscelli C, Hadam MR, Mach B (1988) Congenital immunodeficiency with a regulatory defect in MHC class II gene expressionlacks a specific HLA-DR promotor binding protein („RF-X“). Cell 53: 897–906

    CAS  PubMed  Google Scholar 

  116. Rich KC, Arnold WJ, Palella T, Fox IH (1979) Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency. Am J Med 67: 172–176

    CAS  PubMed  Google Scholar 

  117. Robinson HB (1975) Di George’s or the III-IV pharyngeal pouch syndrome: Pathology and a theory of pathogenesis. Perspect Pediatr Pathol 2:173–206

    PubMed  Google Scholar 

  118. Rosen FS, Cooper MD, Wedgwood RJP (1984 a) The primary immunodeficiencies (first of two parts) N Engl J Med 311: 235–242

    CAS  Google Scholar 

  119. Rosen FS, Cooper MD, Wedgwood RJP (1984b) The primary immunodeficiencies (second of two parts). N Engl J Med 311: 300–310

    CAS  Google Scholar 

  120. Rosen FS, Wedgwood RJ, Eibl M, Aiuti F, Cooper MD, Good RA, Griscelli C, Hanson LA, Hitzig WH, Matsumoto S, Seligmann M, Soothill J, Waldmann TA (1986) Primary immunodeficiency diseases. Report of a World Health Organization Scientific Group. Clin Immunol Immunopathol 40: 166–196

    Google Scholar 

  121. Rössle R (1932) Über gleichzeitige Mißbildungen der branchiogenen Organe and über angeborenen Mangel der Epithelkörperchen. Virchows Arch [Pathol Anat] 283: 41–57

    Google Scholar 

  122. Rössle R (1938) Über den angeborenen Mangel der Epithelkörperchen. Schweiz Med Wochenschr 68: 848–849

    Google Scholar 

  123. Ruco LP, Stoppacciaro A, Pezzella F, Mirolo M, Ussini S, Barsotti P, Cassano AM, Boner AI, Businco L, Fazio A, Baroni CD (1985) The Omenn syndrome: Histological, immunohistochemical and ultrastructural evidence for a partial T cell deficiency evolving in an abnormal proliferation of T lymphocytes and S-100+/T-6+ Langerhans-like cells. Virchows Arch 407: 69–82

    CAS  Google Scholar 

  124. Ryan AK (1996) Spectrum of malformations and developmental outcome in 555 patients with 22gn deletions: A European collaborative study. 7th Manchester Birth Defects Conference, Manchester, UK, 8–11 Okt. 1996

    Google Scholar 

  125. Schaefer HE (1991) Tumoren bei Immundefekten. Verh Dtsch Ges Pathol 75: 80–97

    CAS  PubMed  Google Scholar 

  126. Schuurman HJ, van de Wijngaert FP, Huber J, Schuurman RKB, Zegers BJM, Roord JJ, Kater L (1985) The thymus in „bare lymphocyte“ syndrome: Significance of expression of major histocompatibility complex antigens on the thymic epithelial cells in intrathymic T-cellmaturation. Hum Immunology 13: 69–82

    CAS  Google Scholar 

  127. Schwaiger H, Weirich HG, Brunner P, Rass C, Hirsch-Kauffmann M, Groner Y, Schweiger M (1989) Radiation sensitivity of Down’s syndrome fibroblasts might be due to overexpressed Cu/Zn-superoxide-Dismutase (EC 1.15.1.1). Eur J Cell Biol 48: 79–87

    CAS  PubMed  Google Scholar 

  128. Schwartz RS (1972) Immunoregulation, oncogenic viruses, and malignant lymphomas. Lancet 1266–1269

    Google Scholar 

  129. Schwartz RS (1975) Another look at immunologic surveillance. N Engl J Med 293: 181–184

    CAS  PubMed  Google Scholar 

  130. Sedgwick RP, Boder E (1972) Ataxia-teleangiectasia. In: Vinicen PJ, Bruyn GW (eds) A handbook of clinical neurology, Vol 14. North Holland Publishing Company, Amsterdam, pp 267–339

    Google Scholar 

  131. Shah T, Webster ADB, Peters TJ (1983) Lymphocyte enzyme activities in immunodeficiency syndromes with particular reference to common variable hypogammaglobulinemia. Clin Exp Immunol 53: 413–422

    CAS  PubMed Central  PubMed  Google Scholar 

  132. Shores EW, Ewijk W van, Singer A (1991) Disorganization and restoration of thymic medullary epithelial cells in T cell receptor-negative SCID mice: Evidence that receptor-bearing lymphocytes influence maturation of the thymic microenvironment. Eur J Immunol 21: 1657–1661

    CAS  PubMed  Google Scholar 

  133. Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome. Cleft Palate J 15: 56–62

    CAS  PubMed  Google Scholar 

  134. Snover DC, Frizzera C, Spector BD, Perry GS, Kersey JH (1981) Wiskott-Aldrich syndrome: Histopathologic findings in the lymph nodes and spleens of 15 patients. Hum Pathol 12: 821–831

    CAS  PubMed  Google Scholar 

  135. Spector BD, Good RA, Kersey JH (1978) Immunodeficiency diseases and malignancy. In: Lipkin M, Good RA (eds) Gastrointestinal tract cancer. Plenum Medical Book Comp, New York London, pp 51–70

    Google Scholar 

  136. Spitler LE, Levin AS, Stites DP, Fudenberg HH, Huber H (1975) The Wiskott-Aldrich syndrome: Immunologic studies in nine patients and selected family members. Cell Immuno 119: 201–218

    Google Scholar 

  137. Stevens CA, Carey JC, Shigeoka AO (1990) Di George anomaly and velocardiofacial syndrome. Pediatrics 85: 526–529

    CAS  PubMed  Google Scholar 

  138. Strauss PR, Henderson JF, Goodman MG (1985) Nucleosides and lymphocytes - an overview. Proc Soc Exp Biol Med 179: 413–418

    CAS  PubMed  Google Scholar 

  139. Sullivan KE, Stobo JD, Peterlin BM (1985) Molecular analysis of the bare lymphocyte syndrome. J Clin Invest 76: 75–79

    CAS  PubMed Central  PubMed  Google Scholar 

  140. Swift M, Sholman L, Perry M, Chase C (1976) Malignant neoplasma in the families of patients with ataxia-teleangictasia. Cancer Res 36: 209–215

    CAS  PubMed  Google Scholar 

  141. Thomas L (1959) Reactions to homologous tissue antigens in relation to hypersensitivity. In: Lawrence HS (ed) Cellular and humoral aspects of the hypersensitive states. HoeberHarper, New York, pp 529–532

    Google Scholar 

  142. Thompson LF, Seegmiller JE (1980) Adenosine deaminase deficiency and severe combined immunodeficiency disease. Adv Enzymol 51: 167–210

    CAS  Google Scholar 

  143. Touraine JL, Betuel H, Soufflet G, Jeune M (1978) Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens. J Pediatr 93: 47–51

    CAS  PubMed  Google Scholar 

  144. Touraine JL, Marseglia GL, Betuel H (1985) Thirty international cases of bare lymphocyte syndrome: Biological significance of HLA antigens. Exp Hematol [Supp117] 13: 86–87

    Google Scholar 

  145. Tykocinski M, Schinella RA, Greco MA (1983) Fibroblastic reticulum cells in human lymph nodes. An ultrastructural study. Arch Pathol Lab Med 107: 418–422

    CAS  PubMed  Google Scholar 

  146. Vossbeck S, Friedrich W, Heymer B (1991) Pathogenese and Histomorphologie des sogenannten Omenn-Syndroms. Verh Dtsch Ges Pathol 75: 121–125

    CAS  PubMed  Google Scholar 

  147. Waldmann TA, McIntire KR (1972II) Serum-alpha-fetoprotein levels in patients with ataxiateleangiectasia. Lancet 1112–1115

    Google Scholar 

  148. Watanabe S, Iwata M, Maeda H, Ishibashi Y (1987) Immunohistochemical studies of major histocompatibility antigens in a case of the bare lymphocyte syndrome without immunodeficiency. J Am Acad bermatol 17: 895–902

    CAS  Google Scholar 

  149. Wilson D, Burn J, Scambler P, Goodship J (1993) Di George syndrome: Part of CATCH 22. J Med Genet 30: 852–856

    CAS  PubMed  Google Scholar 

  150. Wise WS, Still WJS, Joshi VV (1976) Severe combined immunodeficiency with thymic mast cell hyperplasia. Arch Pathol Lab Med 100: 283–286

    CAS  PubMed  Google Scholar 

  151. Wiskott A (1937) Familiärer, angeborener Morbus Werlhofii? Monatsschr Kinderheilhd 68: 212–216

    Google Scholar 

  152. World Health Organization (1983) Primary immunodeficiency diseases. Report prepared for the WHO by a scientific group on immunodeficiency. Clin Immunol Immunopathol 28: 450–475

    Google Scholar 

  153. World Health Organization (1986) Primary immunodeficiency diseases. Report of a World Health Organization scientific group. Clin Immunol Immunopathol 40: 166–196

    Google Scholar 

  154. World Health Organization (1989) Primary immunodeficiency diseases. Report of a WHO sponsored meeting. Immunodeficiency Rev 1: 173–205

    Google Scholar 

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  1. Pathologisches Institut der Universität, 69120, Heidelberg, Im Neuenheimer Feld 220-221, Deutschland

    Professor Dr.Dr.h.c. Herwart F. Otto

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Otto, H.F. (1998). Kongenitale Defektimmunopathien Immunmangel-Syndrome. In: Pathologie des Thymus. Springer Texts in Statistics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-58922-5_6

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