IMDDHH: A Contribution to the Understanding of the Disease
Asha Prakash Mohapatra, Pusparaj Aditinandan Pradhan, Gayatri Ray, Rakesh Satapathy, D. Manasa
Asian Journal of Pediatric Research · pp. 14–19 · Published 6 Feb 2024
10.9734/ajpr/2024/v14i2323Abstract
Inborn Errors of Immunity (IEI) is an extremely rare group of heterogenous disorders which are characterized by predisposition to severe unusual and recurrent infections, severe allergies, features suggestive of autoimmune conditions and sometimes malignancies. We report a two-year-old female child presented to our emergency department with complaints of a history of recurrent respiratory infections, recurrent skin infections and a recent history of purulent discharge from both ears. Clinical examination revealed acute otitis media, pneumonia, multiple healed skin lesions associated with soft non-tender hepatomegaly and normal cardiac findings. Elevated hepatic transaminases and hypogammaglobulinemia suggested the possibility of an inborn error of immunity. A whole exome sequencing study performed on the patient established a diagnosis of IMDDHH (Immunodeficiency, Developmental Delay, and Hypohomosyteinemia) by revealing a missense mutation in the NFE2L2 gene of chromosome 2q31. Diagnosing such conditions with inborn errors of immunity requires a high index of suspicion combined with a comprehensive knowledge of the structure and function of both innate and adaptive immune systems. Recurrent skin and respiratory infections in a growing child belonging to a low-and-middle-income country like India is a common clinical scenario encountered frequently in pediatric clinic practice and is often ignored after attributing it to poor hygienic conditions. However, with careful history taking and examination, a sub-group of such patients may be isolated with a high probability of an underlying IEI, which can later be confirmed by genetic work-up.
References (11)
- 1 An Nrf2/Small Maf Heterodimer Mediates the Induction of Phase II Detoxifying Enzyme Genes through Antioxidant Response Elements [DOI]
- 2 Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee [DOI]
- 3 Nrf2–Keap1 regulation of cellular defense mechanisms against electrophiles and reactive oxygen species [DOI]
- 4 International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity [DOI]
- 5 BTB Protein Keap1 Targets Antioxidant Transcription Factor Nrf2 for Ubiquitination by the Cullin 3-Roc1 Ligase [DOI]
- 6 Luteolin inhibits Nrf2 leading to negative regulation of the Nrf2/ARE pathway and sensitization of human lung carcinoma A549 cells to therapeutic drugs [DOI]
- 7 Targeting Nrf2 Signaling to Combat Chemoresistance [DOI]
- 8 Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder [DOI]
- 9 Ascorbic acid restores sensitivity to imatinib via suppression of Nrf2-dependent gene expression in the imatinib-resistant cell line [DOI]
- 10 Primary immunodeficiency in children: report of seven years study.
- 11 Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain [DOI]
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