RAG1 deficiency

The clinical description is relatively uniform. No symptoms are detected during pregnancy, birth and within the first few weeks of life. In the majority of cases, the symptoms start within the second or third month of birth. Infectious complications with a high preponderence of opportunistic infections are the hallmark of the disease. The clinical signs are characterized by chronic respiratory disease, recurrent acute pneumonia, therapy-resistant mucocutaneous candidiasis, eczematous dermatitis and systemic bacterial infections. The recurrent infections in addition to chronic enteritis lead to a therapy-resistant growth failure. Intracellular parasites (Listeria, Legionella), viruses (EBV) and cytomegaloviruses (CMV) cause lethal complications. All SCID children die within few months if they are not provided with haematopoietic stem cells. The physical examination of completely RAG deficient patients reveals unusual infections and a characteristic absence of lymphatic organs. In most cases cervical lymph nodes and tonsils are undetectable.