Zusammenfassung
Dieses Kapitel gibt eine kurzgefasste Übersicht über die zahlreichen angeborenen Immundefekte, der Zahl vor dem Hintergrung der kompletten genetischen Analysen durch NGS ständig zunimmt. Die wichtigsten Klassen werden vorgestellt und einige Syndrome und Befunde, die in der täglichen Diagnostik auftreten und an Lymphknotenveränderungen diagnostiziert oder zumindest in der Differenzialdiagnose erwähnt werden sollten, ausführlich und detailliert beschrieben. Hierzu zählen das Antikörpermangel Syndrom, das autoimmune lymphoproliferative Syndrom, die hämophagozytische Lymphohistiozytose, die chronische infantile Granulomatose und genetische Dispositionen für bestimmte Erreger wie EBV und Tuberkulose.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Literatur
Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K, Tang ML (2014) Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 5:162
Al-Saud BK, Al-Sum Z, Alassiri H, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Arnaout R, Alsmadi O, Borrero E, Abu-Staiteh A, Rawas F, Al-Mousa H, Hawwari A (2013) Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients. J Clin Immunol 33:1325–1335
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kutukculer N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal O, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Honig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Duckers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH, Inborn Errors Working Party of E (2015) DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol 35:189–198
Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Gross-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S, Inborn Errors Working Party of the E (2015) The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. Haematologica 100:978–988
Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarstrom L, Nonoyama S, Quinti I, Routes JM, Tang ML, Warnatz K (2016) International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. J Allergy Clin Immunol Pract 4:38–59
Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL (2013) A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol 33:1078–1087
Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, Abel L (2013) Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol 33:1–7
Cavazzana M, Six E, Lagresle-Peyrou C, Andre-Schmutz I, Hacein-Bey-Abina S (2016) Gene therapy for X-linked severe combined immunodeficiency: where do we stand? Hum Gene Ther 27:108–116
Cetica V, Sieni E, Pende D, Danesino C, De Fusco C, Locatelli F, Micalizzi C, Putti MC, Biondi A, Fagioli F, Moretta L, Griffiths GM, Luzzatto L, Arico M (2016) Genetic predisposition to hemophagocytic lymphohistiocytosis: report on 500 patients from the Italian registry. J Allergy Clin Immunol 137:188–196 e184
Chan AY, Anderson MS (2015) Central tolerance to self revealed by the autoimmune regulator. Ann N Y Acad Sci 1356:80–89
Chinen J, Notarangelo LD, Shearer WT (2015) Advances in basic and clinical immunology in 2014. J Allergy Clin Immunol 135:1132–1141
Chinn IK, Shearer WT (2015) Severe combined immunodeficiency disorders. Immunol Allergy Clin North Am 35:671–694
Chiriaco M, Salfa I, Matteo GD, Rossi P, Finocchi A (2015) Chronic granulomatous disease: clinical, molecular and therapeutic aspects. Pediatr Allergy Immunol 27:242–253
Cirillo E, Giardino G, Gallo V, D’Assante R, Grasso F, Romano R, Di Lillo C, Galasso G, Pignata C (2015) Severe combined immunodeficiency – an update. Ann N Y Acad Sci 1356:90–106
Cotta-de-Almeida V, Dupre L, Guipouy D, Vasconcelos Z (2015) Signal integration during T lymphocyte activation and function: lessons from the Wiskott-Aldrich syndrome. Front Immunol 6:47
Farmand S, Sundin M (2015) Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Curr Opin Hematol 22:12–22
Forbes LR, Milner J, Haddad E (2016) Signal transducer and activator of transcription 3: a year in review. Curr Opin Hematol 23:23–27
Gualco G, van den Berg A, Koopmans S, Bacchi LM, Carneiro SS, Ruiz E Jr., Vecchi AP, Chan JK (2008) Autoimmune lymphoproliferative syndrome in a patient with a new minimal deletion in the death domain of the FAS gene. Hum Pathol 39:137–141
Habel A, Herriot R, Kumararatne D, Allgrove J, Baker K, Baxendale H, Bu’Lock F, Firth H, Gennery A, Holland A, Illingworth C, Mercer N, Pannebakker M, Parry A, Roberts A, Tsai-Goodman B (2014) Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times. Eur J Pediatr 173:757–765
Hussain A, Yu L, Faryal R, Mohammad DK, Mohamed AJ, Smith CI (2011) TEC family kinases in health and disease--loss-of-function of BTK and ITK and the gain-of-function fusions ITK-SYK and BTK-SYK. FEBS J 278:2001–2010
Janka GE, Lehmberg K (2013) Hemophagocytic lymphohistiocytosis: pathogenesis and treatment. Hematology Am Soc Hematol Educ Program 2013:605–611
Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM (2013) Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol 132:140–150
Lev A, Simon AJ, Amariglio N, Rechavi G, Somech R (2012) Thymic functions and gene expression profile distinct double-negative cells from single positive cells in the autoimmune lymphoproliferative syndrome. Autoimmun Rev 11:723–730
Maglione PJ, Simchoni N, Cunningham-Rundles C (2015) Toll-like receptor signaling in primary immune deficiencies. Ann N Y Acad Sci 1356:1–21
Maric I, Pittaluga S, Dale JK, Niemela JE, Delsol G, Diment J, Rosai J, Raffeld M, Puck JM, Straus SE, Jaffe ES (2005) Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol 29:903–911
Notarangelo LD (2010) Primary immunodeficiencies. J Allergy Clin Immunol 125(Suppl 2):S182–S194
Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, Rieux-Laucat F, Siegel RM, Su HC, Teachey DT, Rao VK (2010) Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 116:e35–e40
Parvaneh N, Casanova JL, Notarangelo LD, Conley ME (2013) Primary immunodeficiencies: a rapidly evolving story. J Allergy Clin Immunol 131:314–323
Qamar N, Fuleihan RL (2014) The hyper IgM syndromes. Clin Rev Allergy Immunol 46:120–130
Sasahara Y (2016) WASP-WIP complex in the molecular pathogenesis of Wiskott-Aldrich syndrome. Pediatr Int 58:4–7
Staal FJ, Wiekmeijer AS, Brugman MH, Pike-Overzet K (2016) The functional relationship between hematopoietic stem cells and developing T lymphocytes. Ann N Y Acad Sci 1370:36–44
Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d’Enghien C, Brousse N, Jais JP, Fischer A, Hermine O, Stoppa-Lyonnet D (2015) Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. J Clin Oncol 33:202–208
Tangye SG (2014) XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. J Clin Immunol 34:772–779
Unger S, Seidl M, Schmitt-Graeff A, Bohm J, Schrenk K, Wehr C, Goldacker S, Drager R, Gartner BC, Fisch P, Werner M, Warnatz K (2014) Ill-defined germinal centers and severely reduced plasma cells are histological hallmarks of lymphadenopathy in patients with common variable immunodeficiency. J Clin Immunol 34:615–626
Veillette A, Perez-Quintero LA, Latour S (2013) X-linked lymphoproliferative syndromes and related autosomal recessive disorders. Curr Opin Allergy Clin Immunol 13:614–622
Venkataraman G, McClain KL, Pittaluga S, Rao VK, Jaffe ES (2010) Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. Am J Surg Pathol 34:589–594
Verbsky JW, Chatila TA (2013) Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases. Curr Opin Pediatr 25:708–714
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer-Verlag GmbH Deutschland, ein Teil von Springer Nature
About this chapter
Cite this chapter
Müller-Hermelink, H.K., Rüdiger, T. (2019). Lymphknoten bei angeborenen Immundefekten. In: Müller-Hermelink, H., Kreipe, H. (eds) Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-85184-4_21
Download citation
DOI: https://doi.org/10.1007/978-3-540-85184-4_21
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-85183-7
Online ISBN: 978-3-540-85184-4
eBook Packages: Medicine (German Language)