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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...

BackgroundAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autoimmune disorder caused by mutations in the AIRE gene and is characterized by immune dysregulation with multi-organ...

Genetic alteration of the genes of cytoskeletal regulatory proteins (e.g., actin-related protein complex-1 [ARPC1]) results in severe immune and hematological defects. ARPC1B deficiency (ARPC1BD) is an immune-actinopathy...

Common variable Immunodeficiency (CVID) is a heterogeneous immunodeficiency characterized by hypogammaglobulinemia and immune dysregulation. In up to 30% of cases, there is a monogenic defect, with a fraction of these fa...

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...

IntroductionThe ERCC2 gene, located on chromosome 19, is essential for transcription and DNA repair via its protein product, XPD. Mutations in ERCC2 cause disorders such as trichothiodystrophy-1, xeroderma pigmentosum, C...

BackgroundRAS-associated autoimmune leukoproliferative disorder (RALD) is a rare immune-dysregulation syndrome caused by pathogenic mutations in RAS–MAPK pathway genes, most commonly KRAS. It is characterized by autoim...

Since 2020, our clinic has observed a notable increase in primary immunodeficiency (PI) patients presenting with antibody deficiencies, despite previously reporting minimal illness or being clinically stable prior to the...

IntroductionHaploinsufficiency of A20 (HA20) is a monogenic autoinflammatory disorder caused by heterozygous loss-of-function variants in TNFAIP3, resulting in dysregulated NF-κB activation. Clinical presentations are h...

CARMIL2 is a protein required for T cell activation, specifically for CD28 and CARMA-1/PKC coupling and NF-kB signaling. CARMIL2 deficiency has pleiotropic presentations, which can include recurrent viral and mucocutaneo...

BackgroundB cell Expansion with NF-κB Activation and T cell Anergy (BENTA) disease is a rare inborn error of immunity caused by gain-of-function (GOF) variants in CARD11. It is characterized by early-onset lymphadenopat...

X-linked inhibitor of apoptosis (XIAP) is essential for innate and adaptive immune responses, including programmed cell death inhibition, NFkB and MAPK activation, NLRP3 inflammasome activity regulation, and TNFR signali...