X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

Steele, Cathal; Doré, Matthew; Ammann, Sandra; Loughrey, Maurice B.; Montero, Ángeles; Burns, Siobhan O.; Morris, Emma; Gaspar, Bobby; Gilmour, Kimberly; Bibi, Shahnaz; Shendi, Hiba; Devlin, Lisa; Speckmann, Carsten; Edgar, J. D. M.

doi:10.1007/s10875-016-0320-3

Cited by 27 publications

(27 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…XLP1 is commonly associated with lymphoma or hypogammaglobulinemia, and has more rare presentations that include aplastic anemia, vasculitis, and gastrointestinal inflammation. XLP2 is associated with a variety of other disease manifestations including atypical/mild HLH-like episodes, inflammatory bowel disease, recurrent infections, hypogammaglobulinemia, uveitis, fistulating skin disease, granulomatous hepatitis, granulomatous, and lymphocytic interstitial lung disease ( 14 , 15 , 49 – 52 ). CD70 deficiency, CD27 deficiency, ITK deficiency, and MAGT1 all share a strong predisposition to lymphoma.…”

Section: Other Manifestations Of Hlh-associated Diseasesmentioning

confidence: 99%

Epstein–Barr Virus and Hemophagocytic Lymphohistiocytosis

Marsh

2018

Front. Immunol.

126

View full text Add to dashboard Cite

Epstein–Barr virus (EBV) is a ubiquitous virus that infects nearly all people worldwide without serious sequela. However, for patients who have genetic diseases which predispose them to the development of hemophagocytic lymphohistiocytosis (HLH), EBV infection is a life-threatening problem. As a part of a themed collection of articles on EBV infection and human primary immune deficiencies, we will review key concepts related to the understanding and treatment of HLH.

show abstract

Section: Other Manifestations Of Hlh-associated Diseasesmentioning

confidence: 99%

Epstein–Barr Virus and Hemophagocytic Lymphohistiocytosis

Marsh

2018

Front. Immunol.

126

View full text Add to dashboard Cite

show abstract

“…While historically identified as a non-infectious complication of CVID, GLILD is now increasingly being reported in other PID, including Kabuki syndrome [3], LRBA mutations [4], X-linked inhibitor of apoptosis [5], CTLA4 mutations [6], Good’s syndrome [ 7], RAG mutations [8 ], hypogammaglobulinemia of unclear etiology in infancy [9], and 22q11.2DS [10•]. Moreover, GLILD may even be the first manifestation of an underlying PID [42•].…”

Section: Resultsmentioning

confidence: 99%

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

Sood

Funkhouser

Handly

et al. 2018

Curr Allergy Asthma Rep

View full text Add to dashboard Cite

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.

show abstract

“…XIAP deficiency (OMIM 300635), also called X-linked lymphoproliferative syndrome type 2 (XLP-2), is a rare inherited disease caused by mutations in the XIAP gene, which encodes an important inhibitor of programmed cell death or apoptosis by blocking the activation of caspases 3, 7 and 9 and is related to signal transduction and activation processes, such as the NF-ĸB, MAPK pathway, Table 1 The patient's routine inspections results during hospitalization NLRS, copper metabolism and autophagy [1]. Different patients may develop variable clinical phenotypes, including HLH, colitis or IBD, granulomatous lymphocytic interstitial lung disease (GLILD), granulomatous hepatitis, uveitis and juvenile idiopathic arthritis [2][3][4].…”

Section: Discussionmentioning

confidence: 99%

Eosinophilic colitis in a boy with a novel XIAP mutation: a case report

et al. 2020

View full text Add to dashboard Cite

Background: X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease characterized by haemophagocytic lymphohistiocytosis, recurrent splenomegaly and inflammatory bowel disease (IBD). The only curative treatment is haematopoietic stem cell transplant (HSCT). Case presentation: Here, we report the case of a 22-month-old male with a long history of abdominal distension and anaemia. Clinical and laboratory findings were consistent with eosinophilic colitis. To identify the underlying disease, we performed exome sequencing, which showed an unreported frameshift mutation in the XIAP gene. Conclusion: We present eosinophilic colitis as the initial manifestation of XIAP deficiency for the first time in this article, which expands the mutation spectrum and phenotype of this disease.

show abstract

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

Cited by 27 publications

References 18 publications

Epstein–Barr Virus and Hemophagocytic Lymphohistiocytosis

Epstein–Barr Virus and Hemophagocytic Lymphohistiocytosis

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

Eosinophilic colitis in a boy with a novel XIAP mutation: a case report

Contact Info

Product

Resources

About