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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. ...

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...

Background and AimsAcquired immunodeficiency in patients with hematological oncology is a serious and common complication, significantly impacting prognosis and quality of life. High doses of cytostatic drugs and the mal...

Interferonopathies are rare autoinflammatory disorders driven by a constitutive upregulation of the type I interferon (IFN-I) pathway, leading to chronic activation of this cytokine. Despite advances, direct IFN-I measur...

IntroductionSystemic lupus erythematosus (SLE) in prepubertal children is rare and can indicate a monogenic cause. Although outcomes are variable, monogenic lupus is often difficult to treat with long-term complications ...

Primary Immunodeficiencies (PI) include more than 550 monogenic disorders presenting with recurrent infections, autoimmunity, and significant morbidity. Early molecular diagnosis is essential for guiding targeted treatme...

A 5-year-old female presented at age 2 with recurrent respiratory and ear infections, aphthous ulcers, and severe neutropenia (absolute neutrophil count [ANC] = 400 cells/mcl). Immunological testing at age 4 showed neutr...

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...

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

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...

BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...

BackgroundPyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiencies. Its pathogenesis is incompletely understood, but it has been increasingly reported ...

Autoimmune cytopenias (AIC) are characterized by immune-mediated destruction of platelets (immune thrombocytopenia [ITP]), red blood cells (autoimmune hemolytic anemia [AIHA]), neutrophils (autoimmune neutropenia [AIN]),...

BackgroundX-linked hyper-IgM syndrome (XHIM) due to CD40L deficiency typically presents in early childhood with recurrent sinopulmonary or opportunistic infections, and its initial manifestations can be misleading. We re...

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

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

BackgroundEarly complement pathway deficiencies predispose to invasive infections with encapsulated bacteria. C2 deficiency is the most common human complement deficiency, yet it may remain clinically silent until a life...

IntroductionHyperinflammatory and hemophagocytic lymphohistiocytosis (HLH)-like presentations are increasingly recognized as clinical “red flags” for inborn errors of immunity (IEI), including severe combined immunod...

BackgroundChronic granulomatous disease (CGD) is characterized by defective neutrophil oxidative burst activity with subsequent susceptibility to catalase-positive organisms, invasive fungal infections, in addition to in...

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...

IntroductionLow T cell receptor excision circles (TRECs) on newborn screen and severe T cell lymphopenia in a term newborn raise concern for severe combined immunodeficiency (SCID). Genetic polymorphisms in thiopurine me...

IntroductionAdenosine deaminase–deficient severe combined immunodeficiency (ADA-SCID) is an autosomal recessive disorder comprising ∼15% of SCID cases. Newborn screening (NBS) relies on T cell receptor excision circl...

BackgroundNewborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) enables early detection of disorders affecting T cell development. While low TRECs typically indicate...

BackgroundTelomere biology disorders (TBD) are rare multisystem disorders characterized by a wide array of clinical presentations, including bone marrow failure, pulmonary fibrosis, and malignancy predisposition due to p...