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Interferon regulatory factor-2-binding protein-2 (IRF2BP2) is a transcriptional regulator affecting diverse cellular functions, including cell differentiation and apoptosis. It plays an important role in lymphocyte and m...

This study presents PrimDx, a diagnostic test that applies machine learning (ML) to whole blood transcriptomic data to improve early detection and diagnosis of primary immunodeficiency (PID). Delays in PID diagnosis are ...

BackgroundN-acetylcysteine (NAC) is a key precursor of glutathione (GSH), the lung’s principal antioxidant. First developed as a mucolytic, NAC is now recognized for broader antioxidant, anti-inflammatory, immunomodula...

CD40L-deficient X-linked hyper IgM (XHIGM) syndrome is characterized by defective B cell class switching, deficiency of immunoglobulins G, A, and E, plus other immune abnormalities due to disrupted CD40L–CD40 interacti...

Autosomal-dominant hyper-IgE syndrome (AD-HIES) is characterized by chronic mucocutaneous candidiasis, recurrent sinopulmonary pneumonias, noninflammatory atopic dermatitis, extremely high levels of serum IgE, and non-im...

Early diagnosis of primary immunodeficiency (PID) remains a significant clinical challenge, often delaying treatment and increasing the risk of severe infections. Accurate identification of antibody (Ab) deficiencies typ...

OBJECTIVE: Our aim was to investigate the clinical and laboratory findings of patients with AAamyloidosis. MATERIAL and METHODS: Fifty-nine patients with AA-amyloidosis were included in this study. The patients were d...

BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

BackgroundFibrinous bronchitis, also known as plastic bronchitis, is a rare airway disorder characterized by branching bronchial casts that replicate the architecture of the bronchial tree. Adult cases are uncommon and f...

RationaleGenetic testing can reveal a molecular diagnosis in 20–40% of patients with inborn errors of immunity (IEI) such as predominantly antibody deficiencies (PAD), though this varies by IEI type and other factors. ...

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia an...

CTLA4 haploinsufficiency is caused by mutations in the CTLA4 gene. The loss of this important immune checkpoint leads to uncontrolled production of lymphocytes, causing infiltration of T cells into multiple organs (gastr...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

IntroductionComplement C2 deficiency is a classical pathway defect associated with recurrent infections and autoimmunity. This case demonstrates the need for increased awareness amongst rheumatologists for the indication...

IntroductionSporotrichosis is an uncommon but emerging opportunistic infection in immunocompromised patients. Primary pulmonary sporotrichosis can disseminate and result in significant morbidity and mortality, despite tr...

BackgroundAsthma is traditionally conceptualized as a T helper 2 (Th2)-mediated inflammatory airway disease. However, increasing evidence suggests that primary immune dysregulation may underlie or phenotypically mimic as...

BackgroundRecurrent bacterial pneumonia accompanied by atypical systemic findings may indicate an uncharacterized inborn error of immunity (IEI). We report a 10-year-old male with recurrent pneumonias, mildly low but fun...

BackgroundDominant-negative (DN) STAT3 defects (STAT3-DN) result in >75% loss of STAT3 function and lead to autosomal-dominant hyper-IgE syndrome (HIES) characterized by severe eczema, recurrent bacterial and fungal infe...

ObjectiveEarly recognition of inborn errors of immunity (IEI) is critical to avoid morbidity and irreversible organ damage. Jeffrey Modell Foundation (JMF) warning signs have long guided and still guide clinical suspicio...