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Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.
Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY. Collins C, et al. J Clin Immunol. 2021 Jul;41(5):881-895. doi: 10.1007/s10875-021-01059-7. Epub 2021 May 13. J Clin Immunol. 2021. PMID: 33987750 Free PMC article. Review.
Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. ...Cultured thymus tissue is being investigated as a treatment for congenital athymia. Here, we review what is known about the epidemiology, underlying et …
Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. ...Cultured thymus tissue is …
Congenital Athymia: Unmet Needs and Practical Guidance.
Howley E, Davies EG, Kreins AY. Howley E, et al. Ther Clin Risk Manag. 2023 Mar 13;19:239-254. doi: 10.2147/TCRM.S379673. eCollection 2023. Ther Clin Risk Manag. 2023. PMID: 36935770 Free PMC article. Review.
Inborn errors of thymic stromal cell development and function which are associated with congenital athymia result in life-threatening immunodeficiency with susceptibility to infections and autoimmunity. ...Newborn screening (NBS) for severe combined immunodeficiency …
Inborn errors of thymic stromal cell development and function which are associated with congenital athymia result in life-thre …
Improving thymus implantation for congenital athymia with interleukin-7.
Min H, Valente LA, Xu L, O'Neil SM, Begg LR, Kurtzberg J, Filiano AJ. Min H, et al. Clin Transl Immunology. 2023 Nov 22;12(11):e1475. doi: 10.1002/cti2.1475. eCollection 2023. Clin Transl Immunology. 2023. PMID: 38020730 Free PMC article.
OBJECTIVES: Thymus implantation is a recently FDA-approved therapy for congenital athymia. Patients receiving thymus implantation develop a functional but incomplete T cell compartment. Our objective was to develop a mouse model to study clinical thymus implantation …
OBJECTIVES: Thymus implantation is a recently FDA-approved therapy for congenital athymia. Patients receiving thymus implantat …
Economic burden of congenital athymia in the United States for patients receiving supportive care during the first 3 years of life.
Collins C, Kim-Chang JJ, Hsieh E, Silber A, O'Hara M, Kulke S, Cooper MA. Collins C, et al. J Med Econ. 2021 Jan-Dec;24(1):962-971. doi: 10.1080/13696998.2021.1962129. J Med Econ. 2021. PMID: 34324414 Free article.
AIMS: Congenital athymia is an ultra-rare pediatric condition characterized by the lack of thymus in utero and the naive T cells critical for infection defense and immune regulation. ...METHODS: A medical chart audit by the treating physician was used to collect pat …
AIMS: Congenital athymia is an ultra-rare pediatric condition characterized by the lack of thymus in utero and the naive T cel …
Replacing defective thymus function.
Kreins AY, Graham Davies E. Kreins AY, et al. Curr Opin Allergy Clin Immunol. 2020 Dec;20(6):541-548. doi: 10.1097/ACI.0000000000000695. Curr Opin Allergy Clin Immunol. 2020. PMID: 33044341 Review.
There are potential broader applications of this treatment outside congenital athymia. RECENT FINDINGS: At the same time as further characterization of the cultured thymus product in terms of thymic epithelial cells and lymphoid composition, preclinical studies have …
There are potential broader applications of this treatment outside congenital athymia. RECENT FINDINGS: At the same time as fu …
Impact of newborn screening for SCID on the management of congenital athymia.
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. Howley E, et al. J Allergy Clin Immunol. 2024 Jan;153(1):330-334. doi: 10.1016/j.jaci.2023.08.031. Epub 2023 Sep 9. J Allergy Clin Immunol. 2024. PMID: 37678573 Free PMC article.
BACKGROUND: Newborn screening (NBS) programs for severe combined immunodeficiency facilitate early diagnosis of severe combined immunodeficiency and promote early treatment with hematopoietic stem cell transplantation, resulting in improved clinical outcomes. Infants with cong …
BACKGROUND: Newborn screening (NBS) programs for severe combined immunodeficiency facilitate early diagnosis of severe combined immunodefici …
Defining the Clinical, Emotional, Social, and Financial Burden of Congenital Athymia.
Hsieh EWY, Kim-Chang JJ, Kulke S, Silber A, O'Hara M, Collins C. Hsieh EWY, et al. Adv Ther. 2021 Aug;38(8):4271-4288. doi: 10.1007/s12325-021-01820-9. Epub 2021 Jul 2. Adv Ther. 2021. PMID: 34213759 Free PMC article.
INTRODUCTION: Characterize the burden of illness in pediatric patients with congenital athymia who were receiving supportive care. METHODS: This cross-sectional study of adult caregivers of patients with congenital athymia used both a quantitative surv …
INTRODUCTION: Characterize the burden of illness in pediatric patients with congenital athymia who were receiving supportive c …
Introducing thymus for promoting transplantation tolerance.
Fitch ZW, Kang L, Li J, Knechtle SJ, Turek JW, Kirk AD, Markert ML, Kwun J. Fitch ZW, et al. J Allergy Clin Immunol. 2022 Sep;150(3):549-556. doi: 10.1016/j.jaci.2022.05.006. Epub 2022 Jun 9. J Allergy Clin Immunol. 2022. PMID: 35690492 Review.
We also review our experience with allogeneic processed thymus tissue for the treatment of congenital athymia, encompassing complete DiGeorge syndrome and other rare genetic disorders, and consider whether allogeneic processed thymic tissue implantation may offer a …
We also review our experience with allogeneic processed thymus tissue for the treatment of congenital athymia, encompassing co …
Primary and secondary defects of the thymus.
Dinges SS, Amini K, Notarangelo LD, Delmonte OM. Dinges SS, et al. Immunol Rev. 2024 Mar;322(1):178-211. doi: 10.1111/imr.13306. Epub 2024 Jan 16. Immunol Rev. 2024. PMID: 38228406 Review.
While newborn screening for severe combined immune deficiency has allowed improved detection at birth of congenital athymia, thymic disorders acquired later in life are still underrecognized and assessing the quality of thymic function in such conditions remains a c …
While newborn screening for severe combined immune deficiency has allowed improved detection at birth of congenital athymia, t …
Severe Combined Immunodeficiency Disorders.
Chinn IK, Shearer WT. Chinn IK, et al. Immunol Allergy Clin North Am. 2015 Nov;35(4):671-94. doi: 10.1016/j.iac.2015.07.002. Immunol Allergy Clin North Am. 2015. PMID: 26454313 Review.
The conditions result from either intrinsic defects in T-cell development (ie, severe combined immunodeficiency disease [SCID]) or congenital athymia (eg, complete DiGeorge anomaly). Hematopoietic stem cell transplant provides the only clinically approved cure for S …
The conditions result from either intrinsic defects in T-cell development (ie, severe combined immunodeficiency disease [SCID]) or congen …
32 results