Repeated bacterial infections are frequent in children with AIDS owing to the B cell abnormalities produced by HIV infection. We report on two infants who presented with hypogammaglobulinaemia and with no HIV antibodies, but with epidemiological, immunological, and clinical features of AIDS.
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http://dx.doi.org/10.1136/adc.62.8.853 | DOI Listing |
Clin Exp Immunol
January 2025
Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Introduction: STAT3 orchestrates crucial immune responses through its pleiotropic functions as a transcription factor. Patients with germline monoallelic dominant negative or hypermorphic STAT3 variants, who present with immunodeficiency and/or immune dysregulation, have revealed the importance of balanced STAT3 signaling in lymphocyte differentiation and function, and immune homeostasis. Here, we report a novel missense variant of unknown significance in the DNA binding domain of STAT3 in a patient who experienced hypogammaglobulinemia, lymphadenopathy, hepatosplenomegaly, immune thrombocytopenia, eczema and enteropathy over a 35-year period.
View Article and Find Full Text PDFOpen Med (Wars)
December 2024
Department of Pulmonary and Critical Care Medicine, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, Hainan, China.
Introduction: Recurrent opportunistic infections are particularly common in patients infected with human immunodeficiency virus (HIV). However, these opportunistic infections have also been reported in HIV-negative patients, especially those with primary immunodeficiency disorder (PID), a condition that involves a large heterogeneous group of disorders arising from defects in immune system development and/or function.
Case: Here, we report a very rare case of recurrent opportunistic infections in a non-HIV-infected patient combined with mutations in complement component C6 and nuclear factor kB subunit 1 ().
Cureus
December 2024
Department of Hematology and Oncology, Toyohashi Municipal Hospital, Toyohashi, JPN.
Primary immunodeficiency (PID) is one of the causes of secondary autoimmune hemolytic anemia (AIHA) and Evans' syndrome (ES). Serum immunoglobulins should be tested in patients with AIHA/ES, as common variable immunodeficiency is the most common PID of secondary AIHA/ES. However, it is not fully understood how immunodeficiency is assessed, in addition to serum immunoglobulins.
View Article and Find Full Text PDFCardiol Young
January 2025
Department of Pediatric Cardiology, Intensive Care Medicine and Congenital Heart Disease, Justus Liebig University, Giessen, Germany.
Background: A subgroup of CHDs can only be treated palliatively through a Fontan circulation. In case of a failing Fontan situation, serum proteins are lost unspecifically and can also lead to a loss of vaccine antibodies. In a failing Fontan situation, heart transplantation may be the only feasible option.
View Article and Find Full Text PDFJ Nippon Med Sch
January 2025
Department of Pediatrics, Nippon Medical School.
An infant was diagnosed as having X-linked agammaglobulinemia (XLA) at age 3 months and was receiving immunoglobulin replacement therapy. He developed SARS-CoV-2 infection at age 7 months and was treated with intravenous immunoglobulin, remdesivir, and dexamethasone. His respiratory symptoms improved quickly, and the infection resolved.
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