Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

Kubala, Stephanie; Do, Huy M.; Ferré, Elise M. N.; Schrump, David S.; Olivier, Kenneth N.; Walls, Jeffrey G.; Lionakis, Michail S; Folio, Les

doi:10.1016/j.rmcr.2021.101476

Cited by 3 publications

(2 citation statements)

References 21 publications

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“…Autoimmune pneumonitis develops in up to 40% of APECED patients, typically presenting with chronic cough that is often misdiagnosed as asthma or bronchitis. Chronically untreated pneumonitis progresses to cause severe bronchiectatic structural lung disease with development of secondary pulmonary infections with bacteria and non-tuberculous mycobacteria ( 11 , 168 ). We perform periodic chest imaging with computed tomography in all APECED patients because some patients can be asymptomatic in the early stages of autoimmune pneumonitis.…”

Section: Clinical Management Of Apeced Patientsmentioning

confidence: 99%

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

2021

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease caused by loss-of-function mutations in the autoimmune regulator (AIRE) gene. AIRE deficiency impairs immune tolerance in the thymus and results in the peripheral escape of self-reactive T lymphocytes and the generation of several cytokine- and tissue antigen-targeted autoantibodies. APECED features a classic triad of characteristic clinical manifestations consisting of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenal insufficiency (Addison's disease). In addition, APECED patients develop several non-endocrine autoimmune manifestations with variable frequencies, whose recognition by pediatricians should facilitate an earlier diagnosis and allow for the prompt implementation of targeted screening, preventive, and therapeutic strategies. This review summarizes our current understanding of the genetic, immunological, clinical, diagnostic, and treatment features of APECED.

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Section: Clinical Management Of Apeced Patientsmentioning

confidence: 99%

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

2021

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“…Although we had previously reported patients with thymoma-associated and APECED-associated autoimmune pneumonitis display common clinical, radiographic, histological, and bronchial-directed autoantibodies (BPIFB1 and KCNRG), there has been no published literature on how to treat thymoma-associated pneumonitis. In both cases, our patients initially presented with mycobacterial disease in the setting of chronic, uncontrolled airway inflammation that persisted despite anti-mycobacterial therapy, which we have also observed in some patients with uncontrolled APECED-associated autoimmune pneumonitis [ 5 , 14 , 15 ]. Importantly, the histological presentation of autoimmune pneumonitis differs from that of patients without thymoma infected with NTM.…”

Section: Discussionmentioning

confidence: 74%

Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis

Ferré,

Nichols-Vinueza,

Rosen

et al. 2024

J Clin Immunol

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Background Thymoma presents with several autoimmune manifestations and is associated with secondary autoimmune regulator (AIRE) deficiency. Pneumonitis has recently been described as an autoimmune manifestation associated with thymoma presenting with similar clinical, radiographic, histological, and autoantibody features as seen in patients with inherited AIRE deficiency who suffer from Autoimmune PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome. Objectives To treat two patients with biopsy-proven thymoma-associated pneumonitis with lymphocyte-directed immunomodulation. Methods Two patients with thymoma were enrolled on IRB-approved protocols at the NIH Clinical Center. We performed history and physical examination; laboratory, radiographic, histologic and pulmonary function evaluations; and measurement of the lung-directed autoantibodies KCNRG and BPIFB1 prior to and at 1- and 6-months following initiation of lymphocyte-directed immunomodulation with azathioprine with or without rituximab. Results Combination T- and B-lymphocyte-directed immunomodulation resulted in improvement of clinical, functional, and radiographic parameters at 6-month follow-up evaluations in both patients with sustained remission up to 12–36 months following treatment initiation. Conclusion Lymphocyte-directed immunomodulation remitted autoimmune pneumonitis in two patients with thymoma.

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Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report

Silani,

Simonetta,

Gramegna

et al. 2024

BMC Pulm Med

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Background The rare monogenic syndrome Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) leads to multisystemic autoimmunity with possible lung involvement. Autoimmune pneumonitis is a rare manifestation, with bronchiectasis being the most frequent radiologic pattern, and may lead to fatal outcome. The Sardinian population in Italy has a high incidence of APECED, although no case of lung manifestation has been reported yet in this cohort. This is the case of a Sardinian APECED patient referred to a bronchiectasis clinic. Our aim is to raise awareness and screen these patients earlier for pulmonary involvement and to initiate multidisciplinary treatment for better outcome. Case presentation A 49-year-old female native of Sardinia from consanguineous parents was diagnosed with APECED in childhood and was referred to our bronchiectasis clinic in March 2023. In addition to typical APECED features, she reported recurrent respiratory infections since childhood, chronic purulent sputum and a hospitalization for pneumonia. She came to our attention with a recent isolation of P. aeruginosa on sputum culture and diffuse cylindrical and varicoid bronchiectasis on her first CT scan. She underwent aetiologic screening for bronchiectasis with no evidence of another cause of disease. Lung treatment was optimized according to bronchiectasis guidelines, and during follow-up the patient developed methicillin-resistant Staphylococcus aureus (MRSA) infection and M. intracellulare pulmonary disease. The patient was offered P. aeruginosa eradication treatment with intravenous antibiotics and initiation of antimycobacterial therapy. Conclusion This is the first documented lung involvement case of APECED in a Sardinian patient, and the first patient reported to enter a bronchiectasis program. The patient was prescribed lung imaging late in time when bronchiectasis complications were already present. Our case report highlights the need for early pulmonary screening and multidisciplinary management in patients with APECED. Supplementary Information The online version contains supplementary material available at 10.1186/s12890-024-03149-9.

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Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

Cited by 3 publications

References 21 publications

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis

Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report

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