https://orcid.org/0000-0003-3509-2913
Figures & data
Figure 1. [A] family pedigree of LRBA deficiency, (B) NGS results revealed a novel homozygous missense variation in exon 53 of the LRBA gene [c.7799G > A; (p.Cys2600Tyr)]which changes codon 2600 cysteine to tyrosine; [C and D]: PBD viewer allowed visualizing the wild type residue Cys2600 along with Mutated type Tyr2600 showing the effect of mutation on LRBA protein.
![Figure 1. [A] family pedigree of LRBA deficiency, (B) NGS results revealed a novel homozygous missense variation in exon 53 of the LRBA gene [c.7799G > A; (p.Cys2600Tyr)]which changes codon 2600 cysteine to tyrosine; [C and D]: PBD viewer allowed visualizing the wild type residue Cys2600 along with Mutated type Tyr2600 showing the effect of mutation on LRBA protein.](/cms/asset/dd2b276a-9ba5-41fd-88e4-61b6df7a9f73/yhem_a_2058736_f0001_oc.jpg)
Table 1. Haematological biochemical and molecular data of the proband and parents.
Table 2. Laboratory values for affected individuals with homozygous mutations in LRBA gene associated with Inborn Errors of Immunity (IEI)/ primary Immunodeficiency (PID).
Supplemental material