scholarly journals Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease

2021 ◽  
Vol 9 ◽  
Author(s):  
Suleiman Al-Hammadi ◽  
Amal M. Yahya ◽  
Abdulla Al-Amri ◽  
Amar Shibli ◽  
Ghazala B. Balhaj ◽  
...  

In the United Arab Emirates, BCG (Bacillus Calmette-Guérin) is administered to all newborns. We present here a young infant with an inborn error of immunity (IEI) who developed fatal adverse events to this live-attenuated vaccine. This male infant received BCG (Serum Institute of India Pvt., Ltd., India) on Day 11 of life. On Day 25, he developed fever, followed by cervical lymphadenitis and bilateral otitis media with fluid drainage. On Day 118, he was admitted with severe hemophagocytic lymphohistiocytosis (HLH), and passed away on Day 145. The diagnostic exome sequencing test identified a hemizygous nonsense variant, NM_000397.3(CYBB):c.676C>T, p.Arg226* (rs137854592). Pathogenic variants of CYBB [cytochrome b(-245), beta subunit; Mendelian Inheritance in Man [MIM] accession code, 300481] are known to cause “immunodeficiency 34, mycobacteriosis, X-linked” (IMD34, MIM#300645) and “chronic granulomatous disease, X-linked” (CGDX, MIM#306400). The natural history of his illness is consistent with “X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD).” This entity is responsible for his BCG disease and is a likely trigger of his HLH. This disastrous event underlines the importance of developing worldwide policies that target BCG disease prevention, especially in communities with high prevalence of IEI. Moreover, screening for genetic causes of MSMD in the community could pave the way, at least partially, for scale-up of tuberculosis (TB) prevention.

2009 ◽  
Vol 52 (4) ◽  
pp. 527-529 ◽  
Author(s):  
Joris M. van Montfrans ◽  
Eva Rudd ◽  
Lisette van de Corput ◽  
Jan-Inge Henter ◽  
Peter Nikkels ◽  
...  

2020 ◽  
Vol 11 ◽  
Author(s):  
Jacqueline D. Squire ◽  
Stephanie N. Vazquez ◽  
Angela Chan ◽  
Michele E. Smith ◽  
Deepak Chellapandian ◽  
...  

Chronic granulomatous disease (CGD) is a primary immune deficiency due to defects in phagocyte respiratory burst leading to severe and life-threatening infections. Patients with CGD also suffer from disorders of inflammation and immune dysregulation including colitis and granulomatous lung disease, among others. Additionally, patients with CGD may be at increased risk of systemic inflammatory disorders such as hemophagocytic lymphohistiocytosis (HLH). The presentation of HLH often overlaps with symptoms of systemic inflammatory response syndrome (SIRS) or sepsis and therefore can be difficult to identify, especially in patients with a primary immune deficiency in which incidence of infection is increased. Thorough evaluation and empiric treatment for bacterial and fungal infections is necessary as HLH in CGD is almost always secondary to infection. Simultaneous treatment of infection with anti-microbials and inflammation with immunosuppression may be needed to blunt the hyperinflammatory response in secondary HLH. Herein, we present a series of X-linked CGD patients who developed HLH secondary to or with concurrent disseminated CGD-related infection. In two patients, CGD was a known diagnosis prior to development of HLH and in the other two CGD was diagnosed as part of the evaluation for HLH. Concurrent infection and HLH were fatal in three; one case was successfully treated, ultimately receiving hematopoietic stem cell transplantation. The current literature on presentation, diagnosis, and treatment of HLH in CGD is reviewed.


PEDIATRICS ◽  
2014 ◽  
Vol 134 (6) ◽  
pp. e1727-e1730 ◽  
Author(s):  
Gregory Valentine ◽  
Tessy A. Thomas ◽  
Trung Nguyen ◽  
Yi-Chen Lai

2016 ◽  
Vol 138 (1) ◽  
pp. 241-248.e3 ◽  
Author(s):  
Francesca Conti ◽  
Saul Oswaldo Lugo-Reyes ◽  
Lizbeth Blancas Galicia ◽  
Jianxin He ◽  
Güzide Aksu ◽  
...  

2010 ◽  
Vol 56 (3) ◽  
pp. 460-462 ◽  
Author(s):  
Chintan Parekh ◽  
Thomas Hofstra ◽  
Joseph A. Church ◽  
Thomas D. Coates

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