100536 - Late onset immunodeficiency in children

Primary immunodeficiency are usually caricatures, responsible for severe and/or recurring early infections from the first years of life, Can sometimes have a late revelation, in adulthood (DICV) or during adolescence.

 Case of a 15-year-old patient referred for bilateral bronchopneumopathy. she is from a consanguineous marriage, had a brother who died at the age of 3 months in a febrile context. she had repeated otitis since the age of 9 and a chronic cough with expectoration since the age of 13. Given this symptomatology, Tuberculosis, Primary Ciliary Dyskinesia DCP, Cystic Fibrosis eliminated to retain a Primary Immunodeficiency (PID), after elimination of HIV. Biological assessment: Lymphopenia, slight decrease in IgA. Deep T and B lymphopenia, Decrease in naive T (CD45RA) and RTE. Expansion of naive B lymphocytes with defective switching of memory B lymphocytes.  All the results suggest a probable late-onset combined immunodeficiency (LOCID).

Late onset combined immunodeficiency (LOCID) is a recently described variant of common variable immunodeficiency (CVID), involving adult patients with opportunistic infections and/or low CD4+ lymphocyte counts.  differs from classical CVID in its clinical and immunological features. The systematic T cell phenotype can help distinguish these patients from those with CVID.

Its identification should lead to a more appropriate diagnostic and therapeutic approach to infections and provide information for genetic diagnosis.

In our patient, repeated ear infections with respiratory symptoms should have led to the diagnosis of PID despite the late onset, the fact that she did not necessarily have severe infections (no hospitalization) and even without growth retardation.