The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). 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. Newborn screening programs for SCID have been implemented in many countries to facilitate early detection and treatment.Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune system associated with life-threatening infections.
Early diagnosis and treatment are crucial for improving the chances of survival.Įarly diagnosis and intervention are crucial for improving the outcome of individuals with SCID. Symptoms of SCID often appear during infancy, with recurrent infections, failure to thrive, and chronic diarrhea being common signs. These mutations primarily affect the development and function of T cells, B cells, and sometimes NK cells – all of which are crucial for a healthy immune system. SCID is caused by mutations in various genes, leading to different forms of the disorder. SCID is sometimes referred to as the “bubble boy disease” due to the case of David Vetter, who lived in a sterile environment to avoid infections. It is characterized by a severely weakened or nearly absent immune response, leaving affected individuals highly susceptible to infections. Severe Combined Immunodeficiency (SCID) is a group of rare, life-threatening genetic disorders that affect the immune system.