Granulomatous-Lymphocytic Interstitial Lung Disease in 22q11.2 Deletion Syndrome: a Case Report and Literature Review

Abstract

Purpose of Review Granulomatous-lymphocytic interstitial lung disease (GLILD) has classically been associated with common variable immune deficiency (CVID), but is increasingly being reported in other immunodeficiencies. We describe the second reported case of GLILD in a patient with 22q11.2 deletion syndrome (22q11.2DS) and review the recent literature surrounding GLILD. Recent Findings GLILD is characterized by granulomata and lymphoproliferation. Consensus statements and retrospective and case-control studies have better elucidated the clinicopathological and radiographic manifestations of GLILD, allowing for its differentiation from similar conditions like sarcoidosis. Gaps of knowledge remain, however, particularly regarding optimal management strategies. Combination therapies targeting T and B cell populations have recently shown favorable results. Summary GLILD is associated with poorer outcomes in CVID. Its recognition as a rare complication of 22q11.2DS and other immunodeficiencies therefore has important therapeutic and prognostic implications. Additional research is needed to better understand the natural history and pathogenesis of GLILD and to develop evidence-based practice guidelines.

Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders—A Multicenter Observational Study

“…GLILD was originally described in patients with CVID (17). Currently, there is a growing number of studies reporting this disease in other PIDs, including DGS and LRBA deficiency (24)(25)(26). Moreover, interstitial lymphocytic lung disease was recognized in 4 NBS patients (11%) described by Deripapa et al (27).…”

Human immunodeficiency virus-associated vacuolar encephalomyelopathy with granulomatous-lymphocytic interstitial lung disease improved after antiretroviral therapy: a case report

“…GLILD in adults is defined as ‘‘a distinct clinico-radio-pathological interstitial lung disease occurring in patients with CVID, associated with a lymphocytic infiltrate and/or granuloma in the lung, and in whom other conditions have been considered and where possible excluded [ 5 ] ’’. While this consensus definition focuses on patients with CVID, we suggest its extrapolation to include other immunodeficiencies in which GLILD is becoming increasingly recognized [ 6 ], such as in the case of our patient diagnosed with AIDS. The etiology of GLILD is yet undetected, but decreased CD4 T cells might be related to the development of GLILD [ 6 ].…”

“…While this consensus definition focuses on patients with CVID, we suggest its extrapolation to include other immunodeficiencies in which GLILD is becoming increasingly recognized [ 6 ], such as in the case of our patient diagnosed with AIDS. The etiology of GLILD is yet undetected, but decreased CD4 T cells might be related to the development of GLILD [ 6 ]. Respiratory symptoms are often nonspecific with pulmonary function tests indicating a mild restrictive disorder with a more marked decrease in diffusing capacity [ 6 ], as seen in our case.…”

“…The etiology of GLILD is yet undetected, but decreased CD4 T cells might be related to the development of GLILD [ 6 ]. Respiratory symptoms are often nonspecific with pulmonary function tests indicating a mild restrictive disorder with a more marked decrease in diffusing capacity [ 6 ], as seen in our case. Radiographically, diffuse pulmonary nodules with a lower predominance and surrounded by a GGO is predominant in GLILD [ 6 ].…”

“…Granulomatous-lymphocytic interstitial lung disease (GLILD) is a diffuse lung disease characterized by both granulomatous and lymphoproliferative histopathologic patterns in the lung [ 5 ]. Although GLILD was classically identified as a non-infectious complication of common variable immunodeficiency (CVID), it is now being recognized in other primary immunodeficiency disorders [ 6 ]. However, HIV-associated GLILD has not been reported previously.…”