Journal: Journal of Clinical Immunology
Summary: 1. 18 LRBA deficient patients were evaluated for Serum Ig levels, lymphocyte subsets, CTLA4 and LRBA by flow and mutation by NGS
2. Age of presentation was from 2 months to 6 years with an average diagnostic delay of 4.5 years
3. Immune cytopenia, recurrent sino-pulmonary infections, endocrinopathy, splenomegaly and enteropathy were common clinical features and 5/15 patients expired
4. Flowcytometric (FCM)evaluation showed significantly low B and naive Th cell numbers also CTLA4 expression before stimulation with Calcium inomycin and LRBA-MFI index was low
5. 6/15 patients had protein truncating mutations and 11/15 patients had mutations that lead to loss of BEACH domain
Bottom line: 1. LRBA patients present with varied clinical phenotype that leads to delay in diagnosis.
2. Authors report an easy flow based assay for LRBA that can be used reliably as big deletions can be missed by Next generation sequencing