Bibliographic Details
| Title: |
ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis. |
| Authors: |
Al-Saud, Bandar, Al-Mogarri, Ibrahim, Alajlan, Huda, Alkhattabi, Fadia, Al-Ahmari, Ali, Alowain, Mohammed, Alshareef, Turki, Al-Alwan, Monther, Alazami, Anas M. |
| Source: |
Journal of Clinical Immunology; Oct2023, Vol. 43 Issue 7, p1529-1532, 4p |
| Subject Terms: |
PULMONARY fibrosis, INTERSTITIAL lung diseases, THROMBOTIC thrombocytopenic purpura, MONONUCLEAR leukocytes |
| Abstract: |
7857407 2 Le Voyer T, Neehus A-L, Yang R, Ogishi M, Rosain J, Alroqi F. Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Here, we describe the clinical, molecular, and immunological characteristics for a patient with a ZNFX1 mutation who presented with HLH-like disease and was found to have interstitial pneumonitis, peripheral monocytosis, renal disease, and B cell compartment abnormalities. This patient's clinical phenotype was consistent with previous reports and includes recurrent viral illness, monocytosis, thrombocytopenia, hepatosplenomegaly, nephromegaly, interstitial pneumonitis, and suspected HLH. This patient had recurrent chest infections presumably related to viruses, evident by a positive nasopharyngeal aspiration PCR for rhinovirus and respiratory syncytial virus on two different occasions, and a chest CT showing diffuse airspace opacity infiltration. [Extracted from the article] |
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| Database: |
Complementary Index |
