title: Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male.
abstract: 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 included profound hypogammaglobulinemia and absence of B cells. Under immunoglobulin substitution for 5 years patient has permanent lymphopenia, skewed phenotype of T cells and diminished number of recent thymic emigrants.
authors.affiliation: Immunology Laboratory, Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk region, v. Borovlyani, Belarus. sharapovasv@gmail.com
authors.forename: Svetlana O
authors.initials: SO
authors.lastname: Sharapova
authors.forename: Alexandr
authors.initials: A
authors.lastname: Migas
authors.forename: Irina
authors.initials: I
authors.lastname: Guryanova
authors.forename: Svetlana
authors.initials: S
authors.lastname: Aleshkevich
authors.forename: Semen
authors.initials: S
authors.lastname: Kletski
authors.forename: Anne
authors.initials: A
authors.lastname: Durandy
authors.forename: Michael
authors.initials: M
authors.lastname: Belevtsev
mesh_terms: D000293:Adolescent; D000361:Agammaglobulinemia / Q000188:drug therapy / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D001402:B-Lymphocytes / Q000276:immunology / Q000473:pathology; D006099:Granuloma / Q000188:drug therapy / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics* / Q000276:immunology; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage; D008297:Male; D009154:Mutation; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology / Q000473:pathology*; D012867:Skin / Q000276:immunology / Q000473:pathology*; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology; D013997:Time Factors
chemical_list: D018398:Homeodomain Proteins; D016756:Immunoglobulins, Intravenous; C064658:RAG-1 protein