PMC7719336_01
Hematoxylin and eosin stain (H&E) of biopsy specimens. (A) Intestinal biopsy specimen revealed acid-fast bacilli. (B) Intestinal biopsy specimen showed acid-fast bacilli (arrows). (C) Lymph node biopsy specimen revealed acid-fast bacilli. (D) Lymph node biopsy specimen showed acid-fast bacilli (arrows). (E) Bronchial biopsy specimen revealed acid-fast bacilli. (F) Bronchial biopsy specimen showed acid-fast bacilli (arrow). Original magnifications: (A) 100X; (B, D and F) 1000X; (C and E) 200X.
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Pathology showed chronic inflammation with granulomas (Figure 1A and B). Puncture revealed granulomatous inflammation in the left cervical lymph nodes and acid-fast staining was positive (Figure 1C and D). Pathological examination of the bronchial biopsy sample revealed many acid-fast stain positive bacteria (Figure 1E and F).
Computed tomography and Bronchoscopy findings. (A) Chest CT showed a nodular lesion in the right main bronchus (arrow). (B) Abdominal CT showed a mass in the right lower abdomen (arrow). (C) Bronchoscopy showed nodules in the right bronchus (arrow). (D) The nodule in the right bronchus was smaller after five months of treatment (arrow).
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A chest CT scan revealed a nodular lesion in the right main bronchus (Figure 2A). An abdominal CT scan revealed a mass in the right lower abdomen (Figure 2B). Bronchoscopy was performed, which revealed mucosal infiltrate and blockage of the upper left and lower right bronchus (Figure 2C). After five months of treatment, bronchoscopy showed a narrowing of the nodule in the right bronchus (Figure 2D).
Identification of TYK2 compound heterozygous mutation. (A) Validation by Sanger sequencing of theTYK2 mutations in the patient and his parents. (B) Pedigree of a family in our case. Squares and circles indicate males and females, respectively. Darkened symbols represent the affected individuals. The proband is indicated by an arrow. W, wild-type; M1, c.3083A>G (p.N1028S); M2, c.2590C>T (p. R864C).
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R864C) in TYK2 (Figure 3A). Both parents were heterozygous and healthy (Figure 3B).