4/7/2024 0 Comments What is scid caused by![]() ![]() 2015 24:7361–72.ĭvorak CC, Haddad E, Buckley RH, Cowan MJ, Logan B, Griffith LM, et al. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency. Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Bjorkman A, et al. Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C. Sundin M, Uhlin M, Gaballa A, Ramme K, Kolios AG, Marits P, et al. Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment. 2019 15:2.Ĭattaneo F, Recher M, Masneri S, Baxi SN, Fiorini C, Antonelli F, et al. IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature. Lim CK, Abolhassani H, Appelberg SK, Sundin M, Hammarstrom L. Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: report of the Italian primary immunodeficiency network. 2017 27:299–304.Ĭirillo E, Cancrini C, Azzari C, Martino S, Martire B, Pession A, et al. Clinical, laboratory, and molecular findings for 63 patients with severe combined immunodeficiency: a decade´s experience. 2015 1:15061.įazlollahi MR, Pourpak Z, Hamidieh AA, Movahedi M, Houshmand M, Badalzadeh M, et al. Severe combined immunodeficiencies and related disorders. 2022 42:1036–50.įischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Clinical and laboratory factors affecting the prognosis of severe combined immunodeficiency. Ozturk E, Catak MC, Kiykim A, Baser D, Bilgic Eltan S, Yalcin K, et al. The results of our study expand the clinical and molecular spectrum associated with SCID and leaky SCID phenotypes and provide valuable information for the clinical management of the patients. Moreover, all variants were confirmed in patients and their parents as a heterozygous state by Sanger sequencing. The second report of LAT deficiency in SCID patients is presented in this study. The mutations include RAG2 (p.I273T,p.G44X), IL7R (p.F361WfsTer17), ADA (c.780+1G>A), JAK3 (p.Q228Ter), LIG4 (p.G428R), and LAT (p.Y207fsTer33), as well as a previously reported missense mutation in RAG1 (p.A444V). All patients (4 males and 4 females) in early infancy presented with SCID phenotypes within 6 months of birth. Here, we describe the clinical manifestations and genetic results of four SCID and atypical SCID patients. Therefore, SCID patients need to receive an early diagnosis. Variations in SCID phenotypes, especially atypical SCID, may cause a significant delay in diagnosis. Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune system associated with life-threatening infections.
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