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Page 1
Newborn Screening for Severe Combined Immunodeficiency.
Taki M, Miah T, Secord E. Taki M, et al. Immunol Allergy Clin North Am. 2021 Nov;41(4):543-553. doi: 10.1016/j.iac.2021.07.007. Immunol Allergy Clin North Am. 2021. PMID: 34602227 Review.
The T-cell receptor excision circle (TREC) assay is an effective screening tool for severe combined immunodeficiency (SCID). The TREC assay was designed to detect typical SCID and leaky SCID, but any condition causing low naive T-cell counts will also …
The T-cell receptor excision circle (TREC) assay is an effective screening tool for severe combined immunodeficiency (S …
Newborn Screening for Severe Combined Immunodeficiency.
Taki M, Miah T, Secord E. Taki M, et al. Pediatr Clin North Am. 2019 Oct;66(5):913-923. doi: 10.1016/j.pcl.2019.06.007. Pediatr Clin North Am. 2019. PMID: 31466681 Review.
The T-cell receptor excision circle (TREC) assay is an effective screening tool for severe combined immunodeficiency (SCID). The TREC assay was designed to detect typical SCID and leaky SCID, but any condition causing low naive T-cell counts will also …
The T-cell receptor excision circle (TREC) assay is an effective screening tool for severe combined immunodeficiency (S …
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck JM. Puck JM. Immunol Rev. 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729. Immunol Rev. 2019. PMID: 30565242 Free PMC article. Review.
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. ...In addition to bringing to attention …
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screenin …
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.
Villa A, Capo V, Castiello MC. Villa A, et al. Front Immunol. 2020 Nov 19;11:607926. doi: 10.3389/fimmu.2020.607926. eCollection 2020. Front Immunol. 2020. PMID: 33329604 Free PMC article. Review.
Genetic defects in recombination activating genes (RAG) 1 and 2 cause a broad spectrum of severe immune defects ranging from early severe and repeated infections to inflammation and autoimmune manifestations. ...
Genetic defects in recombination activating genes (RAG) 1 and 2 cause a broad spectrum of severe immune defects ranging from early …
Omenn syndrome: inflammation in leaky severe combined immunodeficiency.
Villa A, Notarangelo LD, Roifman CM. Villa A, et al. J Allergy Clin Immunol. 2008 Dec;122(6):1082-6. doi: 10.1016/j.jaci.2008.09.037. Epub 2008 Nov 6. J Allergy Clin Immunol. 2008. PMID: 18992930 Review.
Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodeficiency (SCID). Similar to other patients with SCID, patients with OS present early in infancy with viral or fungal pneumonitis, chronic di …
Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodefici …
Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.
Yazdani R, Abolhassani H, Tafaroji J, Azizi G, Hamidieh AA, Chou J, Geha RS, Aghamohammadi A. Yazdani R, et al. Clin Immunol. 2017 Oct;183:201-206. doi: 10.1016/j.clim.2017.07.007. Epub 2017 Jul 17. Clin Immunol. 2017. PMID: 28729231 Review.
Impairment in Cernunnos leads to a genetic disease characterized by neural disorders, immunodeficiency and increased radiosensitivity. We herein describe a severe combined immunodeficiency (SCID) patient with T- B+ phenotype who had a mutation in Cernu …
Impairment in Cernunnos leads to a genetic disease characterized by neural disorders, immunodeficiency and increased radiosensitivity …
Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.
Esenboga S, Akal C, Karaatmaca B, Erman B, Dogan S, Orhan D, Boztug K, Ayvaz D, Tezcan İ. Esenboga S, et al. Clin Immunol. 2018 Dec;197:1-5. doi: 10.1016/j.clim.2018.08.002. Epub 2018 Aug 16. Clin Immunol. 2018. PMID: 30121298 Review.
V(D)J recombination, during which recognition and repair of broken DNA chains are accomplished by non-homologous end joining pathway, is a critical process in B and T cell development.Null mutations of each enzyme or protein of this pathway result in T- B- NK+ severe co …
V(D)J recombination, during which recognition and repair of broken DNA chains are accomplished by non-homologous end joining pathway, is a c …
The SCID mouse: relevance as an animal model system for studying human disease.
Hendrickson EA. Hendrickson EA. Am J Pathol. 1993 Dec;143(6):1511-22. Am J Pathol. 1993. PMID: 8256843 Free PMC article. Review.
The simultaneous description some 5 years ago of two methods for the partial reconstitution of a human immune system in severe combined immune-deficient (SCID) mice (collectively, human:SCID mice) was met with great enthusiasm. ...In spite of these glowing achieveme …
The simultaneous description some 5 years ago of two methods for the partial reconstitution of a human immune system in severe com …
From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.
Taghizadeh N, Mohammadi S, Abolhassani H, Shokri S, Nabavi M, Fallahpour M, Bemanian MH. Taghizadeh N, et al. BMC Pediatr. 2024 Feb 13;24(1):116. doi: 10.1186/s12887-024-04597-2. BMC Pediatr. 2024. PMID: 38350907 Free PMC article. Review.
BACKGROUND: Severe combined immunodeficiencies (SCIDs) are hereditary disorders characterized by impaired T and B cell function, resulting in significant immune system dysfunction. ...After a comprehensive immunological workup, the initial diagnosis of agammaglobuli …
BACKGROUND: Severe combined immunodeficiencies (SCIDs) are hereditary disorders characterized by impaired T and B cell functio …