Interleukin 7 receptor deficiency

Phenotypically, patients have markedly reduced circulating T cells, an absence of serum Ig in spite of normal B-cell numbers, preserved NK cell numbers and function. Ig levels and NK phenotype are distinct from gamma common chain deficiency, clinically the patients are indistinguishable, with severe and persistent viral and protozoal infections. The recurrent bacterial infections like pneumonia, otitis media, sepsis, persistant viral infections (RSV, enterovirus, parainfluenza, CMV), opportunist infections (Pneumocystis carinii pneumonia) have the onset soon after birth. Other features include failure to thrive and diarrhoea.

Therapeutic options