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Quoted phrase not found in phrase index: "Severe Combined Immunodeficiency with Absence of T, Normal B Cells"
Page 1
Diagnosis and classification of severe combined immunodeficiency disease.
Gelfand EW, Dosch HM. Gelfand EW, et al. Birth Defects Orig Artic Ser. 1983;19(3):65-72. Birth Defects Orig Artic Ser. 1983. PMID: 6360247 Review.
The failure to demonstrate normal humoral and cell-mediated immunity (CMI) in patients diagnosed as SCID is seen to reflect the varied pathogenesis of this syndrome. ...In SCID, lymphocytes of both lineages may be arrested at specific and identifiable stages of maturation, …
The failure to demonstrate normal humoral and cell-mediated immunity (CMI) in patients diagnosed as SCID is seen to reflect the varie …
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM. Barry JC, et al. J Clin Immunol. 2017 Jul;37(5):476-485. doi: 10.1007/s10875-017-0403-9. Epub 2017 May 24. J Clin Immunol. 2017. PMID: 28540525
Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral …
Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only …
Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System.
Gardner CL, Pavel-Dinu M, Dobbs K, Bosticardo M, Reardon PK, Lack J, DeRavin SS, Le K, Bello E, Pala F, Delmonte OM, Malech H, Montel-Hagan A, Crooks G, Acuto O, Porteus MH, Notarangelo LD. Gardner CL, et al. J Clin Immunol. 2021 Jul;41(5):852-862. doi: 10.1007/s10875-021-00989-6. Epub 2021 Mar 1. J Clin Immunol. 2021. PMID: 33650026 Free PMC article.
Severe combined immune deficiency (SCID) caused by RAG1 or RAG2 deficiency is a genetically determined immune deficiency characterized by the virtual absence of T and B lymphocytes. ...Using patient-derived induced pluripotent stem cells …
Severe combined immune deficiency (SCID) caused by RAG1 or RAG2 deficiency is a genetically determined immune deficiency chara …
European experience of bone-marrow transplantation for severe combined immunodeficiency.
Fischer A, Landais P, Friedrich W, Morgan G, Gerritsen B, Fasth A, Porta F, Griscelli C, Goldman SF, Levinsky R, et al. Fischer A, et al. Lancet. 1990 Oct 6;336(8719):850-4. doi: 10.1016/0140-6736(90)92348-l. Lancet. 1990. PMID: 1976883
The outcome of bone-marrow transplantations (BMT) carried out between 1968 and March 1, 1989, in 183 patients with severe combined immunodeficiency (SCID) was analysed. Recipients of HLA-identical BMTs (70) had a 76% probability of survival (median follow-up …
The outcome of bone-marrow transplantations (BMT) carried out between 1968 and March 1, 1989, in 183 patients with severe combined …
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.
Castiello MC, Di Verniere M, Draghici E, Fontana E, Penna S, Sereni L, Zecchillo A, Minuta D, Uva P, Zahn M, Gil-Farina I, Annoni A, Iaia S, Ott de Bruin LM, Notarangelo LD, Pike-Overzet K, Staal FJT, Villa A, Capo V. Castiello MC, et al. Front Immunol. 2023 Nov 13;14:1268620. doi: 10.3389/fimmu.2023.1268620. eCollection 2023. Front Immunol. 2023. PMID: 38022635 Free PMC article.
INTRODUCTION: Recombination activating genes (RAG) 1 and 2 defects are the most frequent form of severe combined immunodeficiency (SCID). Patients with residual RAG activity have a spectrum of clinical manifestations ranging from Omenn syndrome to delayed-ons …
INTRODUCTION: Recombination activating genes (RAG) 1 and 2 defects are the most frequent form of severe combined immunodefi …
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, Blankenstein O, Romanowska H, Krzywińska-Zdeb E, Patalan MF, Bartkowiak E, Szczerba N, Seiberling S, Birkenfeld B, Nauck M, von Bernuth H, Meisel C, Bernatowska EA, Walczak M, Pac M. Giżewska M, et al. Front Immunol. 2020 Oct 16;11:1948. doi: 10.3389/fimmu.2020.01948. eCollection 2020. Front Immunol. 2020. PMID: 33178177 Free PMC article.
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), m …
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two …
A variant of severe combined immunodeficiency with normal in vitro response to allogeneic cells and an increase in circulating B lymphocytes persisting several months after successful bone marrow graft.
Seligmann M, Griscelli C, Preud'homme JL, Sasportes M, Herzog C, Brouet JC. Seligmann M, et al. Clin Exp Immunol. 1974 Jun;17(2):245-52. Clin Exp Immunol. 1974. PMID: 4282850 Free PMC article.
Severe combined immunodeficiency was diagnosed soon after birth in an infant with a well documented familial history of recessive autosomal inheritance. ...In addition, the vast majority of the blood lymphocytes were B lymphocytes bearing membra …
Severe combined immunodeficiency was diagnosed soon after birth in an infant with a well documented familial history of …
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.
Nicolas N, Moshous D, Cavazzana-Calvo M, Papadopoulo D, de Chasseval R, Le Deist F, Fischer A, de Villartay JP. Nicolas N, et al. J Exp Med. 1998 Aug 17;188(4):627-34. doi: 10.1084/jem.188.4.627. J Exp Med. 1998. PMID: 9705945 Free PMC article.
Several genes involved in both V(D)J recombination and DNA repair have been identified through the analysis of in vitro mutants (Chinese hamster ovary cells) and in vivo situations of murine and equine severe combined immunodeficiency (scid). These studies le …
Several genes involved in both V(D)J recombination and DNA repair have been identified through the analysis of in vitro mutants (Chinese ham …
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.
Serwas NK, Kansu A, Santos-Valente E, Kuloğlu Z, Demir A, Yaman A, Gamez Diaz LY, Artan R, Sayar E, Ensari A, Grimbacher B, Boztug K. Serwas NK, et al. Inflamm Bowel Dis. 2015 Jan;21(1):40-7. doi: 10.1097/MIB.0000000000000266. Inflamm Bowel Dis. 2015. PMID: 25479458
METHODS: We analyzed a patient born to consanguineous parents suffering from severe intestinal manifestations since 6 months of age and later diagnosed as IBD. ...In contrast to previously published LRBA-deficient patients, the mutant protein was expressed at similar level …
METHODS: We analyzed a patient born to consanguineous parents suffering from severe intestinal manifestations since 6 months of age a …
Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients.
Haddad E, Landais P, Friedrich W, Gerritsen B, Cavazzana-Calvo M, Morgan G, Bertrand Y, Fasth A, Porta F, Cant A, Espanol T, Müller S, Veys P, Vossen J, Fischer A. Haddad E, et al. Blood. 1998 May 15;91(10):3646-53. Blood. 1998. PMID: 9573000 Free article.
We have performed a retrospective analysis of the development of T- and B-cell functions after HLA-nonidentical T-cell-depleted bone marrow transplantation (BMT) performed in 193 patients with severe combined immunodeficiency (SCID) at 18 Europe …
We have performed a retrospective analysis of the development of T- and B-cell functions after HLA-nonidentical T-cell-deplete …
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