Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14years old male

Human Immunology

Volumn 74, Issue 1, 2013, Pages 18-22

  Sharapova, Svetlana O ^a   Migas, Alexandr ^a   Guryanova, Irina ^a   Aleshkevich, Svetlana ^a   Kletski, Semen ^c   Durandy, Anne ^b   Belevtsev, Michael ^a  

^a Belarusian Research Center for Pediatric Oncology Hematology and Immunology   (Belarus)

^b IMAGINE INSTITUTE   (France)

^c City Clinical Anatomical Pathology Bureau   (Belarus)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN G; IMMUNOSUPPRESSIVE AGENT; PREDNISOLONE; RAG1 PROTEIN;

ADOLESCENT; AGAMMAGLOBULINEMIA; ARTICLE; BRONCHOPNEUMONIA; CASE REPORT; DISEASE ASSOCIATION; FIBROSING ALVEOLITIS; GENE MUTATION; GRANULOMATOUS SKIN DISEASE; HEPATOSPLENOMEGALY; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN DEFICIENCY; LYMPHOCYTOPENIA; MALE; ONSET AGE; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RECURRENT DISEASE; RESPIRATORY FAILURE; SEVERE COMBINED IMMUNODEFICIENCY; SKIN GRANULOMA; T LYMPHOCYTE;

ADOLESCENT; AGAMMAGLOBULINEMIA; B-LYMPHOCYTES; GRANULOMA; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; MALE; MUTATION; PHENOTYPE; SEVERE COMBINED IMMUNODEFICIENCY; SKIN; T-LYMPHOCYTES; TIME FACTORS;

EID: 84870863794     PISSN: 01988859     EISSN: 18791166     Source Type: Journal    
DOI: 10.1016/j.humimm.2012.10.010     Document Type: Article

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