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. 2023 Oct;43(7):1529-1532.
doi: 10.1007/s10875-023-01529-0. Epub 2023 Jun 9.

ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis

Bandar Al-Saud  1   2 ; KFSHRC Physicians & Researchers Consortium; Turki Alshareef  3   4 , Monther Al-Alwan  3   5 , Anas M Alazami  6
Collaborators, Affiliations

ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis

Bandar Al-Saud et al. J Clin Immunol. 2023 Oct.
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Clinical and molecular findings in a patient with ZNFX1 mutation. A Chest X-rays with 12-month interval showing the persistence of diffuse parenchymal infiltrates, with round airspace disease (right upper lobe), patchy airspace disease (both lower lobes), and bronchial wall thickening. B Chest CT (at age of 15 months) showing presence of mediastinal lymphadenopathy. C Diffuse parenchymal lung disease (as interstitial lung disease) with multiple cuts of lung parenchyma. D Real-time reverse transcriptase RT-PCR revealing significantly higher expression of both ZNFX1 and IL-1β transcripts in the patient’s blood, versus three healthy controls. Results are based on two separate experiments, with independent triplicates for each experiment. Asterisks denote significance levels (**p < 0.01 and ***p < 0.001). E IL-1β ELISA on supernatants from neutrophils that were isolated from the patient versus three healthy controls. Neutrophils were either untreated or primed with LPS (200 ng/mL) for 3 h, followed by ATP stimulation (5 mM) for 45 min. Data represent two independent readings. No active infection was noted in the patient during blood draws
See this image and copyright information in PMC

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