[HTML][HTML] Challenges of diagnosing Mendelian susceptibility to mycobacterial diseases in South Africa

D Scholtz, T Jooste, M Möller, A van Coller… - International Journal of …, 2023 - mdpi.com
Inborn errors of immunity (IEI) are genetic disorders with extensive clinical presentations.
They can range from increased susceptibility to infections to significant immune …

Value of diagnostic vaccination in diagnosis of humoral inborn errors of immunity

L Hlongwa, J Peter, E Mayne - Human Immunology, 2023 - Elsevier
Inborn errors of immunity (IEIs) or primary immunodeficiency diseases, are disorders caused
by genetic defects affecting immune function. Clinically, IEI presents mainly as recurrent or …

[HTML][HTML] Clinical utility of whole exome sequencing and targeted panels for the identification of inborn errors of immunity in a resource-constrained setting

C Engelbrecht, M Urban, M Schoeman… - Frontiers in …, 2021 - frontiersin.org
Primary immunodeficiency disorders (PIDs) are inborn errors of immunity (IEI) that cause
immune system impairment. To date, more than 400 single-gene IEI have been well defined …

[HTML][HTML] Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa

A van Coller, B Glanzmann, H Cornelissen, M Möller… - BMC immunology, 2021 - Springer
Abstract Background Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a
primary immunodeficiency (PID) characterised by a predisposition to infection by weakly …

Peripheral‐blood cytopenia, an early indicator of inborn errors of immunity

HM Cornelissen, EM Musekwa… - British Journal of …, 2022 - Wiley Online Library
Inborn errors of immunity (IEI) are inherited monogenic disorders resulting in defective
immune response. Non‐infectious presentations are increasingly more apparent. Widely …

[HTML][HTML] Unbalanced serum immunoglobulins in clinical subtypes of pediatric tuberculosis disease

F Consonni, N Chiti, S Ricci, E Venturini… - Frontiers in …, 2022 - frontiersin.org
Immune response to tuberculosis (TB) has been extensively studied in the past decades and
classically involves cellular immunity. However, evidence suggests that humoral immunity …

Identification of hub genes in tuberculosis via bioinformatics analysis

T Zhang, G Rao, X Gao - Computational and Mathematical …, 2021 - Wiley Online Library
Background. Tuberculosis (TB) is a serious chronic bacterial infection caused by
Mycobacterium tuberculosis (MTB). It is one of the deadliest diseases in the world and a …

[HTML][HTML] Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease

A Dalvi, UA Bargir, G Natraj, I Shah, M Madkaikar - Pathogens, 2024 - mdpi.com
The diagnosis and treatment of patients with mendelian susceptibility to mycobacterial
disease (MSMD) pose consistent challenges due to the diverse infection spectrum observed …

Mendelian susceptibility to mycobacterial disease in tuberculosis-hyperendemic South Africa

HM Cornelissen, B Glanzmann… - South African Medical …, 2021 - journals.co.za
Background Severe infections in the absence of secondary immunodeficiency can alert
clinicians to single-gene inborn errors of immunity/primary immunodeficiency disorders …

Diagnosis of primary immunodeficiency diseases in the developing world: the need for education and networking with the developed world

MF Villavicencio, LA Pedroza - Current Opinion in Pediatrics, 2019 - journals.lww.com
Diagnosis of primary immunodeficiency diseases in the develo... : Current Opinion in Pediatrics
Diagnosis of primary immunodeficiency diseases in the developing world: the need for …