LPS-responsive beige-like anchor protein deficiency

LPS-responsive beige-like anchor protein deficiency
LPS-responsive beige-like anchor protein deficiency
	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

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

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[Gámez-Díaz2016-1] 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

[Lopez-Herrera2012-2] 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

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[2]