Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing

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Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing Publisher Pubmed

Alizadeh Z^{1, 2} ; Fazlollahi MR^{1, 2} ; Mazinani M³ ; Badalzadeh M^{1, 2} ; Heydarlou H^{1, 2} ; Carapito R^{4, 5} ; Molitor A^{4, 5} ; De Oteyza ACG^{6, 7} ; Proietti M^{6, 7, 8} ; Bavani MS^{1, 2} ; Shariat M⁹ ; Fallahpour M¹⁰ ; Movahedi M⁹ ; Moradi L^{1, 2} Show All Authors

Alizadeh Z^{1, 2}
Fazlollahi MR^{1, 2}
Mazinani M³
Badalzadeh M^{1, 2}
Heydarlou H^{1, 2}
Carapito R^{4, 5}
Molitor A^{4, 5}
De Oteyza ACG^{6, 7}
Proietti M^{6, 7, 8}
Bavani MS^{1, 2}
Shariat M⁹
Fallahpour M¹⁰
Movahedi M⁹
Moradi L^{1, 2}
Grimbacher B^{6, 7, 8}
Bahram S^{4, 5}
Pourpak Z^{1, 2}

Source: Genes and Immunity Published:2023

Abstract

Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune system associated with life-threatening infections. Variations in SCID phenotypes, especially atypical SCID, may cause a significant delay in diagnosis. Therefore, SCID patients need to receive an early diagnosis. Here, we describe the clinical manifestations and genetic results of four SCID and atypical SCID patients. All patients (4 males and 4 females) in early infancy presented with SCID phenotypes within 6 months of birth. 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). The second report of LAT deficiency in SCID patients is presented in this study. Moreover, all variants were confirmed in patients and their parents as a heterozygous state by Sanger sequencing. 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. © 2023, The Author(s), under exclusive licence to Springer Nature Limited.

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Style	Citing Format
MLA	Alizadeh Z, et al.. "Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing." Genes and Immunity, vol. 24, no. 4, 2023, pp. 207-214.
APA	Alizadeh Z, Fazlollahi MR, Mazinani M, Badalzadeh M, Heydarlou H, Carapito R, Molitor A, De Oteyza ACG, Proietti M, Bavani MS, Shariat M, Fallahpour M, Movahedi M, Moradi L, Grimbacher B, Bahram S, Pourpak Z (2023). Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing. Genes and Immunity, 24(4), 207-214.
Chicago	Alizadeh Z, Fazlollahi MR, Mazinani M, Badalzadeh M, Heydarlou H, Carapito R, Molitor A, et al.. "Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing." Genes and Immunity 24, no. 4 (2023): 207-214.
Harvard	Alizadeh Z et al. (2023) 'Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing', Genes and Immunity, 24(4), pp. 207-214.
Vancouver	Alizadeh Z, Fazlollahi MR, Mazinani M, Badalzadeh M, Heydarlou H, Carapito R, et al.. Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing. Genes and Immunity. 2023;24(4):207-214.
BibTex	@article{ author = {Alizadeh Z and Fazlollahi MR and Mazinani M and Badalzadeh M and Heydarlou H and Carapito R and Molitor A and De Oteyza ACG and Proietti M and Bavani MS and Shariat M and Fallahpour M and Movahedi M and Moradi L and Grimbacher B and Bahram S and Pourpak Z}, title = {Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing}, journal = {Genes and Immunity}, volume = {24}, number = {4}, pages = {207-214}, year = {2023} }
RIS	TY - JOUR AU - Alizadeh Z AU - Fazlollahi MR AU - Mazinani M AU - Badalzadeh M AU - Heydarlou H AU - Carapito R AU - Molitor A AU - De Oteyza ACG AU - Proietti M AU - Bavani MS AU - Shariat M AU - Fallahpour M AU - Movahedi M AU - Moradi L AU - Grimbacher B AU - Bahram S AU - Pourpak Z TI - Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing JO - Genes and Immunity VL - 24 IS - 4 SP - 207 EP - 214 PY - 2023 ER -