Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency : A longitudinal study
© 2017 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd..
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity, and enteropathy.
METHODS: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory, and molecular data were collected.
RESULT: Hypogammaglobulinemia was reported in 14 (82.4%), CD4+ T-cell deficiency in five (29.4%), NK cell deficiency in three (21.4%), and CD19+ B-cell deficiency in 11 (64.7%) patients. All patients had history of infectious complications; pneumonia was the most common (76.5%) occurring infection. A history of lymphoproliferative disorders was observed in 14 (82.3%), enteropathy in 13 (76.5%), allergic symptoms in six (35.5%), neurologic problems in four (23.5), and autoimmunity (mostly autoimmune cytopenia) in 13 (76.5%) patients. Sirolimus treatment improved enteropathy of patients with remarkable success. The 20-year overall survival rate declined to 70.6%.
CONCLUSION: LRBA deficiency has a very broad and variable phenotype and should be considered, especially in children with early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2017 |
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| Erschienen: |
2017 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:28 |
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| Enthalten in: |
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 28(2017), 5 vom: 15. Aug., Seite 478-484 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Azizi, Gholamreza [VerfasserIn] |
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| Links: |
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| Themen: |
Adaptor Proteins, Signal Transducing |
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| Anmerkungen: |
Date Completed 01.06.2018 Date Revised 08.04.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1111/pai.12735 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM271974354 |
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| 100 | 1 | |a Azizi, Gholamreza |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency |b A longitudinal study |
| 264 | 1 | |c 2017 | |
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| 500 | |a Date Revised 08.04.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2017 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd. | ||
| 520 | |a BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity, and enteropathy | ||
| 520 | |a METHODS: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory, and molecular data were collected | ||
| 520 | |a RESULT: Hypogammaglobulinemia was reported in 14 (82.4%), CD4+ T-cell deficiency in five (29.4%), NK cell deficiency in three (21.4%), and CD19+ B-cell deficiency in 11 (64.7%) patients. All patients had history of infectious complications; pneumonia was the most common (76.5%) occurring infection. A history of lymphoproliferative disorders was observed in 14 (82.3%), enteropathy in 13 (76.5%), allergic symptoms in six (35.5%), neurologic problems in four (23.5), and autoimmunity (mostly autoimmune cytopenia) in 13 (76.5%) patients. Sirolimus treatment improved enteropathy of patients with remarkable success. The 20-year overall survival rate declined to 70.6% | ||
| 520 | |a CONCLUSION: LRBA deficiency has a very broad and variable phenotype and should be considered, especially in children with early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a LRBA | |
| 650 | 4 | |a autoimmunity | |
| 650 | 4 | |a enteropathy | |
| 650 | 4 | |a hypogammaglobulinemia | |
| 650 | 4 | |a primary immunodeficiency | |
| 650 | 7 | |a Adaptor Proteins, Signal Transducing |2 NLM | |
| 650 | 7 | |a Genetic Markers |2 NLM | |
| 650 | 7 | |a LRBA protein, human |2 NLM | |
| 650 | 7 | |a EC 2.7.10.- |2 NLM | |
| 700 | 1 | |a Abolhassani, Hassan |e verfasserin |4 aut | |
| 700 | 1 | |a Mahdaviani, Seyed Alireza |e verfasserin |4 aut | |
| 700 | 1 | |a Chavoshzadeh, Zahra |e verfasserin |4 aut | |
| 700 | 1 | |a Eshghi, Peyman |e verfasserin |4 aut | |
| 700 | 1 | |a Yazdani, Reza |e verfasserin |4 aut | |
| 700 | 1 | |a Kiaee, Fatemeh |e verfasserin |4 aut | |
| 700 | 1 | |a Shaghaghi, Mohammadreza |e verfasserin |4 aut | |
| 700 | 1 | |a Mohammadi, Javad |e verfasserin |4 aut | |
| 700 | 1 | |a Rezaei, Nima |e verfasserin |4 aut | |
| 700 | 1 | |a Hammarström, Lennart |e verfasserin |4 aut | |
| 700 | 1 | |a Aghamohammadi, Asghar |e verfasserin |4 aut | |
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