Novel mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette-Guerin disease and Pneumocystis pneumonia. A case report
| Title | Novel mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette-Guerin disease and Pneumocystis pneumonia. A case report |
|---|---|
| Description | As a form of severe combined immunodeficiency (SCID), JAK3 deficiency can be fatal from severe infections in children, especially after inoculation of live-attenuated vaccines. We report a unique case of JAK3 deficiency with two novel compound heterozygous JAK3 mutations, complicated by disseminated BCG disease and Pneumocystis pneumonia. Case description: A 5-month-old Chinese girl presented with recurring fever and productive cough after BCG vaccination and ineffective antibiotic treatment. Chest CT demonstrated bilateral infiltrations, enlarged mediastinal and axillary lymph nodes, and hypoplasia of thymus. Mycobacterium tuberculosis and Pneumocystis jirovecii were detected from blood sample by sequencing. Acid-fast bacilli were also found from sputum and gastric aspirate. Lymphocyte subset analyses indicated T-B+NK- immunodeficiency, and gene sequencing identified two unreported heterozygous missense mutations in the Janus homology 7 domain of JAK3. |
| Organism | Homo |
| Data Type | Demographic Data |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA010726 |
| Release Date | 2022-07-27 |
| Submitter | Binglin Cui (binglincui@139.com) |
| Organization | The First Affiliated Hospital of Shantou University Medical College |
| Submission Date | 2022-07-25 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001377-02 | chest CT scan | 1 | Demographic Data | 639.5 KB | zip | 0 | Controlled |
| OMIX001377-03 | demo/lab/imaging data | 1 | Demographic Data | 3.4 MB | zip | 0 | Controlled |
| OMIX001377-04 | demo/lab/imaging data summary | 1 | Demographic Data | 40.0 KB | docx | 0 | Controlled |