Clinical and genetic profile of X-linked agammaglobulinemia: a multicenter experience from India

A Rawat, AK Jindal, D Suri, P Vignesh… - Frontiers in …, 2021 - frontiersin.org
Background There is paucity of literature on XLA from developing countries. Herein we
report the clinical and molecular profile and outcome in a multicenter cohort of patients with …

Kawasaki disease and immunodeficiencies in children: case reports and literature review

F Rivas-Larrauri, L Aguilar-Zanela… - Rheumatology …, 2019 - Springer
Kawasaki disease (KD) has features that appear supporting an infectious cause with a
secondary deranged inflammatory/autoimmune response. The association of KD in adults …

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains

E Carrillo-Tapia, E García-García… - Expert Review of …, 2018 - Taylor & Francis
Background: X-linked agammaglobulinemia (XLA) is characterized by the absence of
immunoglobulin and B cells. Patients suffer from recurrent bacterial infections from early …

Kawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications

S Sharma, PL Nadig, RK Pilania, K Sharma… - Diagnostics, 2023 - mdpi.com
The exact etiopathogenesis of Kawasaki disease (KD), the most common childhood
vasculitis, remains unknown; however, an aberrant immune response, possibly triggered by …

Rheumatological Presentation of Inborn Errors of Immunity in Children: A Case Series from a Tertiary Care Center

SH Koneru, M Kumaresan, D Jayaraman… - Annals of African …, 2024 - journals.lww.com
Inborn errors in immunity (IEI), well known as primary immunodeficiency diseases (PID) in
children, have a varied spectrum of presentation. As the normal immune development is key …

p47phox-/- Chronic Granulomatous Disease Patient with Incomplete Kawasaki Disease

GP Hule, PR Kanvinde, MA Kulkarni… - Journal of Clinical …, 2018 - Springer
Chronic granulomatous disease (CGD) is a group of primary immunodeficiency disorders
(PID) caused by a genetic defect in any one of the subunits encoding nicotinamide adenine …

[HTML][HTML] Evaluating Autoimmunity in Patients with Agammaglobulinemia

P Shirmast… - … and Genetics Journal, 2019 - igjournal.ir
Background: Agammaglobulinemia is a primary immunodeficiency disorders (PID) which is
identified by increased susceptibility to the bacterial infections, significant low antibodies …