Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male
SO Sharapova, A Migas, I Guryanova, S Aleshkevich… - Human Immunology, 2013 - Elsevier
We report a male with atypical severe combined immunodeficiency caused by heterozygous
compound mutations c. 256-257del and c. C1331T in RAG1 gene. The patient presents with
recurrent bronchopneumonias with obstruction, chronic fibrosing alveolitis, complicated by
respiratory failure, pulmonary hypertension and hepatosplenomegaly. He was diagnosed
with agammaglobulinemia at the age of 9. His condition was complicated by granulomatous
skin disease at the age of 12 despite regular IVIg substitution. Immunological presentation …
compound mutations c. 256-257del and c. C1331T in RAG1 gene. The patient presents with
recurrent bronchopneumonias with obstruction, chronic fibrosing alveolitis, complicated by
respiratory failure, pulmonary hypertension and hepatosplenomegaly. He was diagnosed
with agammaglobulinemia at the age of 9. His condition was complicated by granulomatous
skin disease at the age of 12 despite regular IVIg substitution. Immunological presentation …