LPS-responsive beige-like anchor protein deficiency

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LPS-responsive beige-like anchor protein deficiency
Autosomal recessive - en.svg
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%)
  • Granulomatous lymphocytic interstitial lung disease (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

Depiction of the function of CTLA4 and its regulation by LRBA

LBRA protein interacts with the protein CTLA4. The absence of LBRA increases the turnover of CTLA4 and interferes with vesicle trafficking.[citation needed]

Diagnosis

In terms of the diagnosis of this deficiency we find that pathogenic genetic variants in the LRBA gene confirm LPS-responsive beige-like anchor protein deficiency[2]

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.[3]

References

  1. 1.0 1.1 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
  2. Mangodt, T. C.; Vanden Driessche, K.; Norga, K. K.; Moes, N.; De Bruyne, M.; Haerynck, F.; Bordon, V.; Jansen, A. C.; Jonckheere, A. I. (13 July 2023). "Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review". BMC Pediatrics. 23 (1): 353. doi:10.1186/s12887-023-04182-z. ISSN 1471-2431. Archived from the original on 20 October 2023. Retrieved 6 October 2023.
  3. 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