Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B

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Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B Pubmed

Shokri S¹ ; Nabavi M¹ ; Hirschmugl T² ; Aghamohammadi A³ ; Arshi S¹ ; Bemanian MH¹ ; Fallahpour M¹ ; Molatefi R¹ ; Rekabi M¹ ; Eslami N¹ ; Ahmadian J¹ ; Darabi K¹ ; Sedighi GR¹ ; Monajemzadeh M⁵ Show All Authors

Shokri S¹
Nabavi M¹
Hirschmugl T²
Aghamohammadi A³
Arshi S¹
Bemanian MH¹
Fallahpour M¹
Molatefi R¹
Rekabi M¹
Eslami N¹
Ahmadian J¹
Darabi K¹
Sedighi GR¹
Monajemzadeh M⁵
Modaresi M^{5, 6}
Parvaneh N³
Boztug K^{2, 7}
Rezaei N^{3, 4, 8}

Show Affiliations

1. Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
2. CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria
3. Research Center for Immunodeficiencies, Childrenâ€™s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
5. Pediatrics Center for Excellence, Childrenâ€™s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
6. Pediatric Respiratory Diseases Education and Research Network (PRDERN), Universal Scientific Education and Research Network (USERN), Tehran, Iran
7. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
8. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Boston, MA, United States

Source: Acta Medica Iranica Published:2016

Abstract

LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP). Combined homozygosity mapping and exome sequencing identified a homozygous LRBA mutation in this patient (p.Asp248Glufs * 2). Such clinical and immunological findings have not been described to date and illustrate the broad and variable clinical phenotype of human LRBA deficiency. © 2016 Tehran University of Medical Sciences. All rights reserved.

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Style	Citing Format
MLA	Shokri S, et al.. "Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B." Acta Medica Iranica, vol. 54, no. 10, 2016, pp. 620-623.
APA	Shokri S, Nabavi M, Hirschmugl T, Aghamohammadi A, Arshi S, Bemanian MH, Fallahpour M, Molatefi R, Rekabi M, Eslami N, Ahmadian J, Darabi K, Sedighi GR, Monajemzadeh M, Modaresi M, Parvaneh N, Boztug K, Rezaei N (2016). Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B. Acta Medica Iranica, 54(10), 620-623.
Chicago	Shokri S, Nabavi M, Hirschmugl T, Aghamohammadi A, Arshi S, Bemanian MH, Fallahpour M, et al.. "Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B." Acta Medica Iranica 54, no. 10 (2016): 620-623.
Harvard	Shokri S et al. (2016) 'Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B', Acta Medica Iranica, 54(10), pp. 620-623.
Vancouver	Shokri S, Nabavi M, Hirschmugl T, Aghamohammadi A, Arshi S, Bemanian MH, et al.. Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B. Acta Medica Iranica. 2016;54(10):620-623.
BibTex	@article{ author = {Shokri S and Nabavi M and Hirschmugl T and Aghamohammadi A and Arshi S and Bemanian MH and Fallahpour M and Molatefi R and Rekabi M and Eslami N and Ahmadian J and Darabi K and Sedighi GR and Monajemzadeh M and Modaresi M and Parvaneh N and Boztug K and Rezaei N}, title = {Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B}, journal = {Acta Medica Iranica}, volume = {54}, number = {10}, pages = {620-623}, year = {2016} }
RIS	TY - JOUR AU - Shokri S AU - Nabavi M AU - Hirschmugl T AU - Aghamohammadi A AU - Arshi S AU - Bemanian MH AU - Fallahpour M AU - Molatefi R AU - Rekabi M AU - Eslami N AU - Ahmadian J AU - Darabi K AU - Sedighi GR AU - Monajemzadeh M AU - Modaresi M AU - Parvaneh N AU - Boztug K AU - Rezaei N TI - Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B JO - Acta Medica Iranica VL - 54 IS - 10 SP - 620 EP - 623 PY - 2016 ER -

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