Congenital athymia
| Congenital athymia | |
|---|---|
 | |
| Human thymus, posterior view. | |
| Specialty | Immunology, Medical genetics |
Congenital athymia is an extremely rare disorder marked by the absence of the thymus at birth.[1] T cell maturation and selection depend on the thymus, and newborns born without a thymus experience severe immunodeficiency.[2] A significant T cell deficiency, recurrent infections, susceptibility to opportunistic infections, and a tendency to develop autologous graft-versus-host disease (GVHD) or, in the case of complete DiGeorge syndrome, a "atypical" phenotype are characteristics of congenital athymia.[3][4]
Signs and symptoms
Congenital athymia's clinical symptoms are directly related to the thymus's absence and its incapacity to generate T cells with the necessary immune capabilities. An increased vulnerability to bacterial, viral, and fungal infections results from T-cell immunodeficiency.[1]
These patients have an especially high incidence of
Congenital athymia patients also have other autoimmune-mediated manifestations, such as
Causes
Congenital athymia is linked to a number of genetic disorders, congenital syndromes, and environmental variables. Genetic abnormalities that are either (1) unique to the development of the thymic organ or (2) related to the development of the midline region as a whole can cause congenital athymia.[1]
Risk factors
Congenital athymia is linked to multiple environmental etiologies. Affected fetal thymus size and other congenital anomalies like
Genetics
The most well-known gene associated with thymic development is Forkhead Box N1 (
The transcription factors known as the paired box family, which control tissue differentiation, includes Paired Box 1 (PAX1).[15] Numerous studies have reported on patients with autosomal recessive otofaciocervical syndrome type 2 (OTFCS2) and mutations in PAX1. Because of altered thymus development, OTFCS2 is associated with a syndromic form of SCID.[16][17]
The two most common genetic syndromes linked to thymus development defects are
Treatment
In October 2021, the thymus tissue product
See also
References
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- ^ a b "FDA Approves Innovative Treatment for Pediatric Patients with Congenital Athymia". U.S. Food and Drug Administration (FDA) (Press release). 8 October 2021. Retrieved 8 October 2021.
This article incorporates text from this source, which is in the public domain.
This article incorporates public domain material from the United States Department of Health and Human Services
Further reading
- Howley, Evey; Davies, E Graham; Kreins, Alexandra Y (2023). "Congenital Athymia: Unmet Needs and Practical Guidance". Therapeutics and Clinical Risk Management. 19. Informa UK Limited: 239–254. PMID 36935770.
- Hsieh, Elena W. Y.; Kim-Chang, Julie J.; Kulke, Sarah; Silber, Abigail; O’Hara, Matthew; Collins, Cathleen (2 July 2021). "Defining the Clinical, Emotional, Social, and Financial Burden of Congenital Athymia". Advances in Therapy. 38 (8). Springer Science and Business Media LLC: 4271–4288. PMID 34213759.