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The RAG1 and RAG2 genes encode proteins essential for initiating V(D)J recombination in T cell receptor and immunoglobulin gene loci. Biallelic pathogenic variants in these genes are implicated in a spectrum of immunodef...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...

BackgroundComplex inflammatory phenotypes in children can pose significant diagnostic challenges, particularly when clinical, histopathologic, and immunologic findings do not conform to established diagnoses. We present ...

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...

IntroductionToll-like receptor 8 gain-of-function (TLR8 GOF) is a recently described inborn error of immunity caused by activating mutations in Tlr8. Pathogenic variants lead to constitutive signaling in myeloid cells an...

Clinical PresentationPatients with germline TET2 loss of function exhibit a syndrome of immunodeficiency, autoimmune lymphoproliferation, developmental delay, and predisposition to lymphoma. An 8-week-old infant was admi...