Characteristics And Genetic Diagnosis Of Chest CT In Primary Immunodeficiency

Objective:To summarize chest CT features of three types of primary immunodeficiency(combined immunodeficiency caused by PIK3 CD gene mutation, CGD and ALPS), providing the reference for clinical work.Methods : The chest CT images were retrospectively analyzed and summarized in diagnosed CID caused by PIK3 CD mutation, CGD and ALPS children of our hospital between April 2005 and October 2015. Our data were also compared with the features described in the published literatures.Results: Two patients with combined immunodeficiency caused by PIK3 CD gene mutation were diagnosed in our hospital totally, both have done chest CT. Common features included: 1) The double hilus pulmonis,mediastinum, axillary lymph node enlargement. 2) pulmonary lesions include consolidation and bronchiectasis. Seventeen CGD patients have done chest CT, by which we found that left axillary lymph node calcification in 11 cases(part of the swelling is not obvious, otherwise 1case was unable to determine whether calcified, for with only enhanced CT), left axillary lymph node enlargement without calcification in 3 cases,left cervical lymph node enlargement with calcification in 1 case, the rootsof right hilar lymph node enlargement with calcification in 1 case,pulmonary nodules in 7 cases. Two of Our hospital diagnosed ALPS have done chest CT, including 1 case was found subclavian lymph nodes,axillary lymph nodes, mediastinal lymph node enlargement, another 1 case was found inflatable excessive, bronchial wall thickening, bilateral axillary lymph nodes and mediastinal lymph node enlargement.Conclusion: Combined immunodeficiency caused by PIK3 CD gene mutation, CGD and ALPS have corresponding chest CT features. Among them, 2 cases of combined immunodeficiency caused by PIK3 CD gene mutation was consistent, suggesting lymph node enlargement and bronchiectasis may have implications to the diagnosis of these patients. In patients with CGD, the incidence of BCG vaccination ipsilateral axillary lymph node calcification is high, which prompting the diagnostic specificty.For ALPS, lymph node enlargement is their common characteristic.Understanding and grasping these characteristics has certain guiding significance to the clinical work.Objective:The aim of this study is to analyze the clinical, laboratory and molecular characteristics of 3 patients with severe combined immunodeficiency(SCID). Futhermore, to provide detailed information for more effective treatment. What’s more, making contribute to the understand, diagnosis and treatment of SCID for clinicians.Methods : 3 patients with suspected SCID admitted to Children’s hospital of Chonqing Medical University during April 2015 and January2016 were included in this study. Their clinical and laboratory data were evaluated. Blood samples were collected from patients and relatives.Possible gene was directly sequenced respectively based on the clinical data.Results: Children 1: gene sequencing found gamma C gene exon region C. 865 C > T pure and mutation, the mutation would lead to amino acids in the 289 th nonsense mutation; Children 2: gene sequencing found RAG1 gene exon region c. 746 A > G and c. 2459 A > G homozygous mutations, the mutation would lead to amino acid missense mutation in 249 and 820; Children with 3 gene sequencing found JAK3 gene exon region c.3019 c > T and c. 1205 G > A compound heterozygous mutations, the mutation would lead to amino acid nonsense mutations in 1007 and 402 occurred missense mutation.Conclusion: The children, whose clinical performance in line with the SCID but ALC normal, should be considered by the Omenn syndrome caused by RAG gene mutation; SCID suspected cases should complete the TREC, TCR Vβ, protein expression level et al. as early as possible; Pay attention to graft versus host disease(GVHD) of SCID children. The suspected SCID children’s use of blood products should be more cautious.For the confirmed SCID children, we should try to avoid blood transfusion in the treatment process, even if the illness need, blood products must also be after special treatment of CMV negative, removal of lymphocytes and radiation; At present, the most basic and the most effective treatments for SCID children is immune reconstruction. Gene therapy has not been carried out in domestic.However, from the point of the present study, it will be the future development direction.