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A Case of the Immune System Actin Up: DOCK11 Deficiency
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A Case of the Immune System Actin Up: DOCK11 Deficiency
Jonathan Li et al · Rockefeller University Press · 2026 · ISSN 3065-8993
A 12-day-old full-term (FT) male presented with one day of diarrhea and respiratory distress. The exam was notable for hypothermia, tachycardia, and hypoxemia. Initial bloodwork showed leukopenia (3,400 cells/uL, absolut...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Clinical Implications of Concurrent Heterozygous LRBA and RTEL1 Variants: A Case Study
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Clinical Implications of Concurrent Heterozygous LRBA and RTEL1 Variants: A Case Study
Brinda Prasanna Kumar et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Deletion of IRF2BP2 Presenting as Late-Onset Common Variable Immunodeficiency with Bronchiectasis
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Deletion of IRF2BP2 Presenting as Late-Onset Common Variable Immunodeficiency with Bronchiectasis
Samantha Shafer et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Eosinophilic Lung Disease as the Initial Manifestation of X-Linked Hyper-IgM Syndrome in an Infant
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Eosinophilic Lung Disease as the Initial Manifestation of X-Linked Hyper-IgM Syndrome in an Infant
Adriana Lopez et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Idiopathic Combined Immunodeficiency Associated with Primary Pulmonary Sporotrichosis
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Idiopathic Combined Immunodeficiency Associated with Primary Pulmonary Sporotrichosis
Marija Rowane et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Multiple Bouts of Hypothermia and Shock in a Child with Gata-2 Mutation
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Multiple Bouts of Hypothermia and Shock in a Child with Gata-2 Mutation
Kristin Hanscom et al · Rockefeller University Press · 2026 · ISSN 3065-8993
We are reporting a 14-year-old male who presented at 12 years of age with recurrent episodes of hypothermia and bradycardia (30s) secondary to culture-negative septic shock from presumed viral respiratory illnesses. His ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Severe Hyperinflammation and Evans Syndrome in Patient with RelA Deficiency Successfully Treated with Infliximab
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Severe Hyperinflammation and Evans Syndrome in Patient with RelA Deficiency Successfully Treated with Infliximab
Jamie Loutfy et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionRelA deficiency is a recently recognized inborn error of immunity (IEI) caused by mutations in the RELA gene. RelA is a transcriptional factor in the NF-kB pathway. Deficiency of RelA leads to impaired downre...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Unraveling B Cell Lymphoma Presenting as AKI and Hypercalcemia in a Patient with BACH2 Variant and CVID
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Unraveling B Cell Lymphoma Presenting as AKI and Hypercalcemia in a Patient with BACH2 Variant and CVID
Renee Crawford et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionBACH2-related immunodeficiency and autoimmunity (BRIDA) increases the risk of developing B cell lymphoma. We present a case of a patient with a known history of common variable immunodeficiency (CVID) and BAC...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Viral or Autoimmune? Acute Encephalitis in the Setting of Newly Diagnosed Primary Immunodeficiency
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Viral or Autoimmune? Acute Encephalitis in the Setting of Newly Diagnosed Primary Immunodeficiency
Vickie Xin et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Encephalitis in immunocompromised individuals presents a unique diagnostic and treatment challenge due to the interplay between infection and immune dysregulation.A 48-year-old male with a history of recurrent sinusitis ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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