Congenital Pathology of the Thymus

  • William Diehl-Jones
  • Debbie F. Askin


Given its central role in the production and maturation of thymocytes, congenital anomalies of the thymus invariably result in some degree of impairment in immune function. The thymus is the largest lymphoid organ relative to body size during fetal life, and is chiefly concerned with the production of immunocompetent T-cells, with their repertoire of helper, cytotoxic, suppressor, and inducer functions in the immune system. In this context, congenital anomalies of the thymus may have a profound impact on neonatal health.


Autism Spectrum Disorder DiGeorge Syndrome Pharyngeal Arch Pharyngeal Pouch Charge Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Gruber PJ (2005) Cardiac development: New concepts. Clin Perinatol 32:845–855PubMedCrossRefGoogle Scholar
  2. 2.
    Goldmuntz E (2005) DiGeorge syndrome: New insights. Clin Perinatol 32:963–978PubMedCrossRefGoogle Scholar
  3. 3.
    Scrambler PJ, Carey AH, Wyse RK et al (1991) Microdeletions within 22q11.2 associated with sporadic and familial DiGeorge syndrome. Genomics 10(1):201–206CrossRefGoogle Scholar
  4. 4.
    Bawle EV, Fratarelli DAC (2006) DiGeorge syndrome. Emedicine (retrieved on July 20, 2007 from Scholar
  5. 5.
    Kobrynski LJ, Sullivan KE (2007) Velocardial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes. Lancet 370:1443–1452PubMedCrossRefGoogle Scholar
  6. 6.
    Hay BN (2007) Deletion 22q11: Spectrum of associated disorders. Semin Pediatr Neurol 14:136–139PubMedCrossRefGoogle Scholar
  7. 7.
    Zhang Z, Cerrato F, Xu H et al (2005) Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development. Development 132(23):5307–5315PubMedCrossRefGoogle Scholar
  8. 8.
    Zhang Z, Huynh T, Baldini A (2006) Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development 133(18):3587–3595PubMedCrossRefGoogle Scholar
  9. 9.
    Hussain I, Win PH (2006) DiGeorge syndrome (retrieved on July 20, 2007 from Scholar
  10. 10.
    Moerman R, Goddeeris P, Lauwerijns J, Van Der Hauwaert LG (1980) Cardiovascular malformations in DiGeorge syndrome (congenital absence or hypoplasia of the thymus). Br Heart J 44:452–459PubMedCrossRefGoogle Scholar
  11. 11.
    Buckley RH (1987) Immunodeficiency diseases. JAMA 258(20):2841–2850PubMedCrossRefGoogle Scholar
  12. 12.
    Plageman TF Jr, Ytuzey KE (2005) T-box genes and heart development: Putting the “T” in heart. Dev Dyn 232:11–20PubMedCrossRefGoogle Scholar
  13. 13.
    Cooper MD, Buckley RH (1982) Developmental immunology and immunodeficiency diseases. JAMA 248(20):2658–2669PubMedCrossRefGoogle Scholar
  14. 14.
    Online Mendelian Inheritance in Man (OMIM) 88400 Revised 10/25/2007, Accessed January 4, 2008Google Scholar
  15. 15.
    Ammann AJ (1977) T Cell and T-B Cell Immunodeficiency Disorders. Pediatr Clin North Am 24(2):293–311PubMedGoogle Scholar
  16. 16.
    Askin DF, Young S (2002) The thymus. Neonatal Netw 20(8):7–13Google Scholar
  17. 17.
    Markert ML, Devlin BH, Alexieff MJ et al (2007) Review of 54 patients with DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 109(10):4539–4547PubMedCrossRefGoogle Scholar
  18. 18.
    Nezelof C (1992) Thymic pathology in primary and secondary immunodeficiencies. Histopathology 21:499–511PubMedCrossRefGoogle Scholar
  19. 19.
    Haynes BF, Warren RW, Buckley RH et al (1983) Demonstration of abnormalities in expression of thymic epithelial surface antigens in severe cellular immunodeficiency diseases. J Immunol 130(3):1182–1188PubMedGoogle Scholar
  20. 20.
    World Health Organization (1986) Primary Immuno-deficiency diseases: Report of a World Health Organization scientific group. Clin Immunol Immunopathol 40:166–196CrossRefGoogle Scholar
  21. 21.
    Rosen FS, Cooper MD, Wedgwood RJ (1984) The primary immunodeficiencies. N Eng J Med 311:235–242Google Scholar
  22. 22.
    National Institutes of Health Office of Rare Disease (; retrieved January 22, 2008)Google Scholar
  23. 23.
    Williams H (2006) The normal thymus and how to recognize it. Arch Dis Child Ed Pract 91:25–28Google Scholar
  24. 24.
    Eifinger F, Ernestus K, Benz-Nohm G et al (2007) True thymic hyperplasia associated with severe thymic cyst bleeding in a newborn: Case report and review of the literature. Ann Diagn Pathol 11:358–362PubMedCrossRefGoogle Scholar
  25. 25.
    Rice HE, Flake AW, Hori T et al (1994) Massive thymic hyperplasia: Characterization of a rare mediastinal mass. J Pediatr Surg 29(12):1561–1564PubMedCrossRefGoogle Scholar
  26. 26.
    Linegar AG, Odell AJ, Fennell WM et al (1993) Massive thymic hyperplasia. Ann Thorac Surg 55(5):1197–1201PubMedGoogle Scholar
  27. 27.
    Gow KW, Kobrynski L, Abramowsky C, Lloyd D (2003) Massive benign thymic hyperplasia in a six-month-old girl: case report. Am Surgeon 69:717–719PubMedGoogle Scholar
  28. 28.
    Shah SS, Lai SY, Ruchelli E et al (2001) Retropharyngeal aberrant thymus. Pediatrics 108(5):e94–e97PubMedCrossRefGoogle Scholar
  29. 29.
    He Y, Zhang Z-Y, Zhu H-G et al (2008) Infant ectopic cervical thymus in submandibular region. Int J Oral Maxillofac Surg 1263:1–4Google Scholar
  30. 30.
    Wagner CW, Vinocur CD, Weintraub WH, Golladay ES (1988) Respiratory complications in cervical thymic cysts. J Pediatr Surg 23:657–660PubMedCrossRefGoogle Scholar
  31. 31.
    Bale PM, Sotelo-Avila C (1993) Maldescent of the thymus: 34 necropsy and 10 surgical cases, including 7 thymuses medial to the mandible. Pediatr Pathol 13:181–190PubMedCrossRefGoogle Scholar
  32. 32.
    Zarbo RJ, McClatchey KD, Areen RG, Baker SB (1983) Thymopharyngeal duct cyst: A form of cervical thymus. Ann Otol Rhinol Laryngol 92:284–289PubMedGoogle Scholar
  33. 33.
    Millman B, Pransky S, Castillo J III et al (1999) Cervical thymic anomalies. Int J Pediatr Otorhinolaryngol 47:29–39PubMedCrossRefGoogle Scholar
  34. 34.
    Raines JM, Rowe LD (1981) Progressive neonatal airway obstruction secondary to cervical thymic cyst. Otolaryngol Head Neck Surg 89:723–725PubMedGoogle Scholar
  35. 35.
    McLeod DM, Karandy EJ (1981) Aberrant cervical thymus. A rare cause of acute respiratory distress. Arch Otolaryngol 107:179–180PubMedGoogle Scholar
  36. 36.
    Park JJ, Kim JW, Kim JP et al (2005) Two cases of ectopic cervical thymus: Case reports and a review of the literature. Auris Nasus Laryns 33:101–105CrossRefGoogle Scholar
  37. 37.
    Loney DA, Bauman NM (1998) Ectopic cervical thymic masses in infants: A case report and review of the literature. Int J Pediatr Otorhinolaryngol 43:77–84PubMedCrossRefGoogle Scholar
  38. 38.
    Leong AS, Brown JH (1984) Malignant transformation in a thymic cyst. Am J Surg Pathol 8:471–475PubMedCrossRefGoogle Scholar
  39. 39.
    Rosevear WH, Singer MI (1981) Symptomatic cervical thymic cyst in a neonate Otolaryngol Head Neck Surg 89:738–741Google Scholar
  40. 40.
    Sahhar HS, Marra S, Boyd C, Akhter J (2003) Ectopic subglottic thymic cyst: A rare cause of congenital stridor. Ear Nose Throat J 82(11):873–874PubMedGoogle Scholar

Copyright information

© Springer-Verlag Italia 2008

Authors and Affiliations

  • William Diehl-Jones
    • 1
    • 2
  • Debbie F. Askin
    • 3
  1. 1.Faculty of NursingUniversity of ManitobaWinnipegCanada
  2. 2.Department of Biological Sciences Faculty of ScienceUniversity of ManitobaWinnipegCanada
  3. 3.Department of Pediatrics Faculty of MedicineUniversity of ManitobaWinnipegCanada

Personalised recommendations