The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

The Journal of Allergy and Clinical Immunology
Laura Gámez-DíazBodo Grimbacher

Abstract

LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency caused by biallelic mutations in LRBA that abolish LRBA protein expression. We sought to report the extended phenotype of LRBA deficiency in a cohort of 22 LRBA-deficient patients. Clinical criteria, protein detection, and genetic sequencing were applied to diagnose LRBA deficiency. Ninety-three patients met the inclusion criteria and were considered to have possible LRBA deficiency. Twenty-four patients did not express LRBA protein and were labeled as having probable LRBA deficiency, whereas 22 were genetically confirmed as having definitive LRBA deficiency, with biallelic mutations in LRBA. Seventeen of these were novel and included homozygous or compound heterozygous mutations. Immune dysregulation (95%), organomegaly (86%), recurrent infections (71%), and hypogammaglobulinemia (57%) were the main clinical complications observed in LRBA-deficient patients. Although 81% of LRBA-deficient patients had normal T-cell counts, 73% had reduced regulatory T (Treg) cell numbers. Most LRBA-deficient patients had low B-cell subset counts, mainly in switched memory B cells (80%) and plasmablasts (92%), with a defective specific antibody response in ...Continue Reading

References

Mar 1, 1997·The Journal of Pediatrics·W M Comans-BitterJ J van Dongen
Nov 11, 2009·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Joon H Park, Arnold I Levinson
May 23, 2012·American Journal of Human Genetics·Gabriela Lopez-HerreraBodo Grimbacher
Jun 23, 2012·The Journal of Allergy and Clinical Immunology·Abdullah AlangariFowzan S Alkuraya
Sep 18, 2012·The Journal of Allergy and Clinical Immunology·Siobhan O BurnsSergey Nejentsev
Oct 21, 2014·Nature Medicine·Desirée SchubertBodo Grimbacher
Dec 6, 2014·Inflammatory Bowel Diseases·Nina Kathrin SerwasKaan Boztug
Dec 30, 2014·The Journal of Allergy and Clinical Immunology·Markus G SeidelKaan Boztug
May 2, 2015·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Shoshana Revel-VilkPolina Stepensky

❮ Previous
Next ❯

Citations

Apr 9, 2016·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Eva LévyFrédéric Rieux-Laucat
May 4, 2016·Paediatric Drugs·Lindsey A George, David T Teachey
Jun 9, 2016·Annals of the American Thoracic Society·Chuen-Yen LauKenneth N Olivier
Jun 3, 2016·Journal of Medical Genetics·Delfien J A BogaertFilomeen Haerynck
Nov 2, 2016·The Journal of Clinical Investigation·Michel J MassaadRaif S Geha
Nov 2, 2016·The Journal of Clinical Investigation·Stuart G Tangye
Nov 9, 2016·Scientific Reports·Mi Young ParkWilliam G Kerr
Nov 12, 2016·The Journal of Allergy and Clinical Immunology. in Practice·Jolan E WalterMegan A Cooper
Nov 12, 2016·The Journal of Allergy and Clinical Immunology. in Practice·Edith SchusslerPaul J Maglione
Dec 26, 2016·International Archives of Allergy and Immunology·Gholamreza AziziAsghar Aghamohammadi
Jan 4, 2017·Gastroenterology·Paola NicolettiUNKNOWN International Drug-Induced Liver Injury Consortium, Drug-Induced Liver Injury Network Investigators, and International Serio
May 20, 2017·Journal of Clinical Immunology·Nizar MahlaouiAndrew Cant
Jun 12, 2017·The Journal of Allergy and Clinical Immunology·Fayhan J AlroqiTalal A Chatila
Jul 4, 2017·The Journal of Allergy and Clinical Immunology·Fabian HauckMarkus G Seidel
Jun 15, 2017·Immunology and Cell Biology·Deborah L BurnettChristopher C Goodnow
Jun 28, 2017·Immunology and Cell Biology·Laura Gámez-DíazSophie Jung
Mar 13, 2018·Immunological Investigations·Gholamreza AziziAsghar Aghamohammadi
Sep 25, 2017·American Journal of Medical Genetics. Part a·Hans D Ochs, Daniel Petroni
May 18, 2017·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Gholamreza AziziAsghar Aghamohammadi
May 18, 2017·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Daniel TegtmeyerChristian Klemann
Jan 24, 2019·Journal of Clinical Immunology·Thomas PincezNathalie Aladjidi
May 14, 2018·Clinical Reviews in Allergy & Immunology·Stella HartonoNicholas L Rider
Oct 4, 2019·Pediatric Research·Sevgi Köstel BalSeza Özen
Nov 10, 2017·Blood·Behzad RowshanravanDavid M Sansom
Oct 2, 2019·Current Opinion in Allergy and Clinical Immunology·Di Sun, Jennifer Heimall
Sep 6, 2019·Current Rheumatology Reports·Helen LeavisRuth D E Fritsch-Stork
Jan 17, 2020·Blood·Hassan AbolhassaniCharlotte Cunningham-Rundles
Sep 29, 2017·Journal of Clinical Immunology·Sevgi Kostel BalAydan Ikinciogullari
Aug 8, 2019·Endocrine, Metabolic & Immune Disorders Drug Targets·Fereshte SalamiAsghar Aghamohammadi
Jan 26, 2020·Gut·Jennie N CloughPeter M Irving
Sep 20, 2017·Immunology and Cell Biology·Michael B Jordan
Feb 5, 2019·International Journal of Radiation Biology·Hossein MozdaraniAsghar Aghamohammadi
Aug 25, 2020·Digestive Diseases and Sciences·Charles B ChenKadakkal Radhakrishnan
Jul 12, 2017·Clinical & Translational Immunology·Nashat Al SukaitiMatthew C Cook
Jul 20, 2017·Orphanet Journal of Rare Diseases·Nina BrataničMagdalena Avbelj Stefanija
Feb 7, 2018·Current Opinion in Allergy and Clinical Immunology·Jennifer W Leiding, Mark Ballow
Dec 20, 2018·Immunological Reviews·Noriko MitsuikiBodo Grimbacher
May 16, 2019·Journal of Clinical Immunology·Tamar WeinbergerPaul J Maglione
Sep 12, 2019·Frontiers in Pediatrics·Ottavia Maria DelmonteLuigi Daniele Notarangelo

❮ Previous
Next ❯

Related Concepts

Related Feeds

Allogenic & Autologous Therapies

Allogenic therapies are generated in large batches from unrelated donor tissues such as bone marrow. In contrast, autologous therapies are manufactures as a single lot from the patient being treated. Here is the latest research on allogenic and autologous therapies.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

B cell Differentiation

Depending on the signal received through the B cell receptor and other receptors, B cells differentiate into follicular or marginal zone B cells. Here is the latest research pertaining to this differentiation process.