LPS-responsive beige-like anchor protein deficiency
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LPS-responsive beige-like anchor protein deficiency | |
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This condition is inherited in an autosomal recessive manner |
LPS-responsive beige-like anchor protein deficiency is a rare genetic condition caused by the absence of LPS-responsive beige-like anchor protein (LRBA).
Signs and symptoms[]
The presentation of this condition is variable making the diagnosis difficult. The most common features include[1]
- Immune dysregulation (95%)
- Organomegaly (86%)
- Recurrent infections (71%)
- Hypogammaglobulinemia (57%)
- (38%)
There is also a tendency to develop inflammatory bowel disease.
Genetics[]
The LBRA gene is located on the long arm of chromosome 4 (4q31.3).[citation needed]
Pathogenesis[]
LBRA protein interacts with the protein CTLA4. The absence of LBRA increases the turnover of CTLA4 and interferes with vesicle trafficking.[citation needed]
Diagnosis[]
Differential diagnosis[]
Management[]
Along with treatment for infections and other complications several additional treatments have been tried. These include hematopoietic stem cell transplantation, immunoglobulin replacement and immunosuppressive treatment.[1]
History[]
This condition was first described in 2012.[2]
References[]
- ^ a b Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B (2016) The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol 137(1):223-230
- ^ Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed, D and 21 others. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet 90: 986-1001
External links[]
Classification |
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- Genetic disorder stubs
- Syndromes
- Autosomal recessive disorders
- Genetic diseases and disorders
- Rare diseases