PMC8349050_01
Clinical course timeline of the patient presented in our study. OSH: outside hospital.
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A 50-year-old male with clinical APECED was referred to our institution for management of refractory pulmonary nontuberculosis mycobacterial (NTM) infection (Fig. 1). His APECED manifestations included CMC diagnosed at age 3, Sjogren's-like syndrome (age 3), intestinal dysfunction (age 5), hypoparathyroidism (age 6), enamel hypoplasia (age 7), Addison's disease (age 14), pernicious anemia (age 20), vitiligo (age 35), and hypogonadism (age 52). He met clinical diagnostic criteria for APECED at 6 years of age upon development of CMC and hypoparathyroidism, and APECED was genetically confirmed upon NIH admission by Sanger sequencing of the AIRE gene, which identified homozygous c.967_979del13, p.L323SfsX51 (Fig. 1). A year later, his clinical condition deteriorated, requiring daily home oxygen therapy with worsening cough and night sweats (Fig. 1). Consequently, he returned to NIH for further evaluation and management spanning a 13-month hospitalization (Fig. 1). He underwent right middle and lower bilobectomy with decortication of right upper lobe and tracheostomy (Fig. 1). This finding in conjunction with histological evidence of lymphocytic inflammation in the tissue prompted treatment of autoimmune pneumonitis (Fig. 1). He remained free from respiratory infections on alternating nebulized tobramycin and amikacin suppression (Fig. 1). At age 56, he developed progressively worsening dyspnea with mild exertion, increased sputum production, and increasing home oxygen requirements (Fig. 1). Upon completion of antibiotic therapy and confirmation of radiographic improvement of pulmonary infections, he received rituximab for treatment of underlying autoimmune pneumonitis flare (Fig. 1). Despite maximal medical therapy, he developed sepsis resulting in multiorgan system failure and death (Fig. 1).
Imaging findings of autoimmune pneumonitis during first admission at the NIH. A. Radiographic features of APECED pneumonitis with ground glass opacities (GGO), tree-in-bud (TIB) opacities without bronchiectasis (yellow oval), and small nodular opacities. B. Bilateral bronchiectasis-associated structural lung disease and mucus plugging (green ovals). C. Large cavitary lesions caused by nontuberculous mycobacteria (NTM) (blue ovals). Chest CT performed in 2013. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.)
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Non-contrast chest CT upon NIH admission showed a broad spectrum of findings representing early (GGO and tree-in-bud abnormalities), intermediate (bronchiectasis and nodules), and late stage characteristics (severe, diffuse bronchiectasis and cavity formation) of autoimmune lung disease complicated by infection (Fig. 2).
Radiographic appearance of the right chest post-omental flap repair. A. Multi-planar volume reformation (MPVR) image showing a large post-surgical communication between the pleural space and external body surface (blue arrow). B. Axial chest CT illustrating the omental flap, which was harvested from the abdominal cavity and was used to cover the right pleural cavity with a small area remaining open for healing by secondary intention (blue arrow) with packing material noted. Images are from 2015. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.)
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After failing a transverse rectus abdominis myocutaneous (TRAM) flap repair, an omental flap closure was ultimately successful (Fig. 3).
Autoimmune pneumonitis and its improvement following lymphocyte-directed immunomodulation. A-B. Chest CT showing left upper lobe consolidation (A, yellow oval) with interval improvement following immunomodulatory treatment (B, orange oval). C-D. Chest CT showing left lower lobe consolidation with bronchiectatic air bronchograms (C, yellow oval) with interval improvement (D, orange oval) following immunomodulatory treatment. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.)
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He was treated with azathioprine and rituximab and his pneumonitis improved symptomatically, radiographically (Fig. 4), and on functional testing (PFTs improved from FVC 19% and FEV1 20% predicted to 32% and 31% predicted, respectively), and he returned home.