Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency

Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency Publisher Pubmed

Ghaini M¹ ; Arzanian MT² ; Shamsian BS² ; Sadr S³ ; Rohani P⁴ ; Keramatipour M⁵ ; Mesdaghi M¹ ; Eskandarzadeh S¹ ; Lo B⁶ ; Jamee M^{7, 8} ; Chavoshzadeh Z¹

Source: Immunological Investigations Published:2021

Abstract

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Further investigations revealed causative mutations in the exon (c.2166_2766del) and intron (c.4730–3 T > G) of the LRBA gene. These results may provide further elucidation of the clinical phenotypes and responsible genetic factors of LRBA deficiency. © 2020 Taylor & Francis Group, LLC.

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Nima Rezaei (11)

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Style	Citing Format
MLA	Ghaini M, et al.. "Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency." Immunological Investigations, vol. 50, no. 4, 2021, pp. 399-405.
APA	Ghaini M, Arzanian MT, Shamsian BS, Sadr S, Rohani P, Keramatipour M, Mesdaghi M, Eskandarzadeh S, Lo B, Jamee M, Chavoshzadeh Z (2021). Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency. Immunological Investigations, 50(4), 399-405.
Chicago	Ghaini M, Arzanian MT, Shamsian BS, Sadr S, Rohani P, Keramatipour M, Mesdaghi M, et al.. "Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency." Immunological Investigations 50, no. 4 (2021): 399-405.
Harvard	Ghaini M et al. (2021) 'Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency', Immunological Investigations, 50(4), pp. 399-405.
Vancouver	Ghaini M, Arzanian MT, Shamsian BS, Sadr S, Rohani P, Keramatipour M, et al.. Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency. Immunological Investigations. 2021;50(4):399-405.
BibTex	@article{ author = {Ghaini M and Arzanian MT and Shamsian BS and Sadr S and Rohani P and Keramatipour M and Mesdaghi M and Eskandarzadeh S and Lo B and Jamee M and Chavoshzadeh Z}, title = {Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency}, journal = {Immunological Investigations}, volume = {50}, number = {4}, pages = {399-405}, year = {2021} }
RIS	TY - JOUR AU - Ghaini M AU - Arzanian MT AU - Shamsian BS AU - Sadr S AU - Rohani P AU - Keramatipour M AU - Mesdaghi M AU - Eskandarzadeh S AU - Lo B AU - Jamee M AU - Chavoshzadeh Z TI - Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency JO - Immunological Investigations VL - 50 IS - 4 SP - 399 EP - 405 PY - 2021 ER -

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