LRBA deficiency is one of the PID in category of the immune dysregulation that shows heterogeneity and present with with autoimmune cytopenia , enteropathy, interstitial lung disease, extra lymphoid lymphocytic infiltration, recurrent infections.
Here we want report 2 cases of LRBA deficiency with novel mutation report and the special presentation.
case histories:
Case 1: A 5 yrs old girl from related parents with history of transient thrombocytopenia , ascitis, protein losing enteropathy ,FTT, interstitial lung disease without hypogamaglobulinemia and histroy of sibling death due to hepatosplenomegaly.Immunologic workup showed normal IGs, normal vaccine response, normal CD3, CD4, CD8,CD19, CD 16-56 in peripheral flowcytometery and normal lymphocyte transformation test (LTT) test.
But mutation analysis was done by primary Immunodeficiency Group ,Institute of Cellular Medicine in Newcastle University and showed novel homozygous deletion of 5 exons (exons 18-22, c.2166_2766del) in the gene LRBA, leading to a frameshift that is followed by a premature stop codon (p.V723SfsX25).
Case 2: A 17yrs old boy from unrelated parents with history of resistant hemolytic anemia, thrombocytopenia since 8 yrs old age with normal routine immunologic workup that showed interstitial lung disease with hypogamaglobulinemia responsive to IVIG replacement and rituximab 2 yrs ago . Mutation analysis was done in the Pishgam Lab in IRAN and showed a c4730-3T.G in intron 29 of the gene LRBA.
These special presentation without hypogammaglobulenima at the begining of the disease presentation and novel mutations in the LRBA gene emphsis on hetrogenetiy in phenotype and genotype of PID genes .