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Aplasia of the thymus

MedGen UID:
146900
Concept ID:
C0685894
Congenital Abnormality
Synonym: Thymic aplasia
SNOMED CT: Congenital absence of thymus (91918005); Aplasia of thymus (702623002); Agenesis of thymus (1003550007); Congenital thymic aplasia (91918005)
 
HPO: HP:0005359

Definition

Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Aplasia of the thymus

Conditions with this feature

T-lymphocyte deficiency
MedGen UID:
101814
Concept ID:
C0152094
Disease or Syndrome
T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by Du et al., 2019).
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MedGen UID:
354935
Concept ID:
C1863236
Disease or Syndrome
Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection.
Severe combined immunodeficiency due to DCLRE1C deficiency
MedGen UID:
355454
Concept ID:
C1865370
Disease or Syndrome
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Vertebral anomalies and variable endocrine and T-cell dysfunction
MedGen UID:
1648299
Concept ID:
C4748741
Disease or Syndrome
Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
MedGen UID:
1824056
Concept ID:
C5774283
Disease or Syndrome
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).

Professional guidelines

PubMed

Dinges SS, Amini K, Notarangelo LD, Delmonte OM
Immunol Rev 2024 Mar;322(1):178-211. Epub 2024 Jan 16 doi: 10.1111/imr.13306. PMID: 38228406Free PMC Article
Howley E, Golwala Z, Buckland M, Barzaghi F, Ghosh S, Hackett S, Hague R, Hauck F, Holzer U, Klocperk A, Koskenvuo M, Marcus N, Marzollo A, Pac M, Sinclair J, Speckmann C, Soomann M, Speirs L, Suresh S, Taque S, van Montfrans J, von Bernuth H, Wainstein BK, Worth A, Davies EG, Kreins AY
J Allergy Clin Immunol 2024 Jan;153(1):330-334. Epub 2023 Sep 9 doi: 10.1016/j.jaci.2023.08.031. PMID: 37678573Free PMC Article
Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY
J Clin Immunol 2021 Jul;41(5):881-895. Epub 2021 May 13 doi: 10.1007/s10875-021-01059-7. PMID: 33987750Free PMC Article

Recent clinical studies

Diagnosis

Chen C, Zhang C, Deng Y, Du S, Wang H, Li D
Forensic Sci Int 2022 Jul;336:111323. Epub 2022 May 2 doi: 10.1016/j.forsciint.2022.111323. PMID: 35580511
Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X
Cold Spring Harb Mol Case Stud 2019 Apr;5(2) Epub 2019 Apr 1 doi: 10.1101/mcs.a003756. PMID: 30755392Free PMC Article
Thierauf A, Dettmeyer R, Wollersen H, Musshoff F, Madea B
Forensic Sci Int 2007 Jul 4;169(2-3):228-33. Epub 2006 May 11 doi: 10.1016/j.forsciint.2006.03.024. PMID: 16690236
Frank DU, Fotheringham LK, Brewer JA, Muglia LJ, Tristani-Firouzi M, Capecchi MR, Moon AM
Development 2002 Oct;129(19):4591-603. doi: 10.1242/dev.129.19.4591. PMID: 12223415Free PMC Article
Levy-Mozziconacci A, Wernert F, Scambler P, Rouault F, Metras D, Kreitman B, Depetris D, Mattei MG, Philip N
Eur J Pediatr 1994 Nov;153(11):813-20. doi: 10.1007/BF01972889. PMID: 7843195

Therapy

Demczuk S, Aurias A
Ann Genet 1995;38(2):59-76. PMID: 7486827
Erdös Z, Romhányi J, Szemenyei C
Acta Paediatr Acad Sci Hung 1976;17(4):287-92. PMID: 1030164

Prognosis

Thierauf A, Dettmeyer R, Wollersen H, Musshoff F, Madea B
Forensic Sci Int 2007 Jul 4;169(2-3):228-33. Epub 2006 May 11 doi: 10.1016/j.forsciint.2006.03.024. PMID: 16690236
Levy-Mozziconacci A, Wernert F, Scambler P, Rouault F, Metras D, Kreitman B, Depetris D, Mattei MG, Philip N
Eur J Pediatr 1994 Nov;153(11):813-20. doi: 10.1007/BF01972889. PMID: 7843195

Clinical prediction guides

Inoue H, Takada H, Kusuda T, Goto T, Ochiai M, Kinjo T, Muneuchi J, Takahata Y, Takahashi N, Morio T, Kosaki K, Hara T
Eur J Pediatr 2010 Jul;169(7):839-44. Epub 2010 Jan 6 doi: 10.1007/s00431-009-1126-6. PMID: 20052490
Hou JW, Wang JK, Chou CC, Wang TR
J Formos Med Assoc 1995 Apr;94(4):200-2. PMID: 7606185

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