Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

LRBA (Lipopolysaccharide-Responsive and Beige-Like Anchor Protein) Deficiency (OMIM# 614700)

Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_87-1


Mutations in the LRBA gene cause an autosomal recessive form of combined immunodeficiency affecting both cellular and humoral immunity. The LRBA gene is located on chromosome 4q31.3 and encodes a multidomain protein, which contains a highly conserved domain called BEACH [beige and Chediak-Higashi (CH) syndrome 1] and multiple terminal tryptophan-aspartic acid (WD) repeats. Several of these domains have functions implicated in regulating endosomal trafficking. BEACH domains are conserved regions which appear to be important as regulators of lysosomal trafficking and may have roles in apoptosis and receptor signaling (Cullinane et al. 2013). The WD domain can play roles in transcription regulation, signal transduction, apoptosis, and vesicle trafficking (Li and Roberts 2001). LRBA is constitutively associated with protein kinase A. It colocalizes with lysosomes, the cytosolic endoplasmic reticulum (ER) and perinuclear ER, the trans-Golgi network, and in endocytic...

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Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Department of PediatricsEmory University School of MedicineAtlantaUSA

Section editors and affiliations

  • M Teresa de la Morena
    • 1
  • Robert P. NelsonJr.
    • 2
  1. 1.The University of Texas Southwestern Medical CenterDallasUSA
  2. 2.Indiana UniversityIndianapolisUSA