A single patient trial with Ataluren in one case of severe common variable immunodeficiency with autoimmunity due to homozygous stop codon mutations of LRBA

and brain. LRBA deficiency (called LATAIE disease) may increase a person's risk of lymphoma, a type of cancer., autoimmunity, low levels of antibodies and recurrent infections. Excess of lymphocytes caused a variety of symptoms, LRBA deficiency due homozygous nonsense mutations. It is a rare genetic disorder of the immune system caused by mutation in LRBA gene. This disease results in excessive number of immune cells calls lymphocytes, lungs, the infiltration is most commun in the gut

In comparison with a pre treatment period of five years improvement of quality of life, weight, diarrhea episode and number of hospitalisations

Expression of LRBA by PBMC, normalisation of CTLA4 expression of CD4 T cells. Normalisation of soluble CD25 and follicular T helper cells

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