Hematopoietic Stem Cell Transplantation for Patients with Autosomal Recessive Complete INF-λ Receptor 2 Deficiency: Experience in Oman

Nazir, Hanan; Rawas, Abdulhakim Al; Al‐Tamemi, Salem; Zadjali, Shoaib Al; Hosni, Saif Al; Tauro, Melanie; Qassabi, Jamal Al; Elnour, Ibtisam; Handgretinger, Rupert; Dennison, David

doi:10.1016/j.jtct.2021.07.013

Cited by 2 publications

(1 citation statement)

References 16 publications

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“…Interestingly, leishmaniasis has been reported in IL-12Rβ1-deficient patients, yet we did not find leishmaniasis in our cohort [36,[44][45][46]. The mortality rate in the present study was 31.8%, which raises the question of whether these patients should undergo hematopoietic stem cell transplantation [47][48][49] In conclusion, the clinical, immunological, and molecular characterization of this patient series with MSMD in Mexico confirmed data in previous studies. The p.S584P variant in IL12RB1 is first described.…”

Section: Discussionsupporting

confidence: 86%

Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico

Lara¹,

Nakashimada²,

León-Lara³

et al. 2022

J Clin Immunol

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Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated Mycobacterium bovis -Bacillus Calmette–Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were enrolled: 14 males (64%) and eight females. After BCG vaccination, 12 patients (70%) developed BCG infection. Furthermore, 6 (22%) patients developed bacterial infections mainly caused by Salmonella , as what is described next in the text is fungal infections, particularly Histoplasma. Seven patients died of disseminated BCG disease. Thirteen different pathogenic variants were identified in IL12RB1 ( n = 13), IFNGR1 ( n = 3), and IFNGR2 ( n = 1) genes. Interleukin-12Rβ1 deficiency is the leading cause of MSMD in our cohort. Morbidity and mortality were primarily due to BCG infection. Supplementary Information The online version contains supplementary material available at 10.1007/s10875-022-01357-8.

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