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A Novel Immunomodulatory Strategy to Control Multiple Immune Dysregulation Disorders in a Pediatric Patient
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A Novel Immunomodulatory Strategy to Control Multiple Immune Dysregulation Disorders in a Pediatric Patient
Jennifer D. Blackwood et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Immune dysregulation can lead to autoimmunity and autoinflammation. The goal of treatment is to balance targeted therapies while avoiding infections or other side effects, which becomes complicated with multiple diagnose...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Allogeneic Hematopoietic Cell Transplantation for SASH3 Deficiency
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Allogeneic Hematopoietic Cell Transplantation for SASH3 Deficiency
Danielle Arnold et al · Rockefeller University Press · 2026 · ISSN 3065-8993
SASH3 deficiency is an X-linked combined immunodeficiency characterized by recurrent sinopulmonary, cutaneous, and mucosal infections, refractory autoimmune cytopenia, and immune dysregulation. We report here the first t...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Beyond Airway Clearance: Specific Antibody Deficiency as a Driver of Refractory Sinopulmonary Disease in Primary Ciliary Dyskinesia
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Beyond Airway Clearance: Specific Antibody Deficiency as a Driver of Refractory Sinopulmonary Disease in Primary Ciliary Dyskinesia
Nathaniel Srikureja, MD et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Combined Immunodeficiency Manifests from S-Adenosylhomocysteine (SAH) Hydrolase Deficiency
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Combined Immunodeficiency Manifests from S-Adenosylhomocysteine (SAH) Hydrolase Deficiency
Ian Cohn et al · Rockefeller University Press · 2026 · ISSN 3065-8993
S-adenosylhomocysteine (SAH) hydrolase deficiency is a rare autosomal recessive disorder caused by pathogenic variants of the gene AHCY. Loss of SAH hydrolase causes SAH accumulation and impairs the methionine/S-adenosyl...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Delayed Diagnosis of DOCK8 Deficiency Unmasked by Tuberculoid Leprosy and JC Virus Infection
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Delayed Diagnosis of DOCK8 Deficiency Unmasked by Tuberculoid Leprosy and JC Virus Infection
Shuayb Elkhalifa et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive combined immunodeficiency marked by severe atopy, recurrent viral and bacterial infections, high immunoglobulin E, eosinophilia, and lymphopenia...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Diagnostic Utility of Genetic Testing in a Complex Multisystem Presentation: A Case of CTLA4 Haploinsufficiency
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Diagnostic Utility of Genetic Testing in a Complex Multisystem Presentation: A Case of CTLA4 Haploinsufficiency
Priyanga Selvakumar et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Dominant-Negative FOXN1 Mutations: Clinical Variability and Omenn Syndrome Management in an International Cohort of 7 Families
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Dominant-Negative FOXN1 Mutations: Clinical Variability and Omenn Syndrome Management in an International Cohort of 7 Families
Paola Suhet et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundTranscription factor forkhead box protein N1 (FOXN1) is the master transcription factor required for differentiation and maintenance of thymic epithelial cells (TECs) and is not only required for embryonic thym...
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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Familial Reticular Dysgenesis Due to Adenylate Cyclase 2 (AK2) Deficiency: Insights from a Three-Sibling Case Series
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Familial Reticular Dysgenesis Due to Adenylate Cyclase 2 (AK2) Deficiency: Insights from a Three-Sibling Case Series
Ashna Jain et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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,...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Fatal Pneumococcal Meningitis in a 22-Month-Old with Classical Complement C2 Deficiency
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Fatal Pneumococcal Meningitis in a 22-Month-Old with Classical Complement C2 Deficiency
Mariam Eldaba et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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HEM-1-Associated Inborn Error of Immunity: A Case Series
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HEM-1-Associated Inborn Error of Immunity: A Case Series
Sebastian Chamorro Ordonez et al · Rockefeller University Press · 2026 · ISSN 3065-8993
NCKAP1L encodes hematopoietic protein-1 (HEM1), a component of the WASp family verproline-homologous protein (WAVE) actin regulatory complex, activated downstream of multiple immune receptors. HEM1 deficiency disrupts WA...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Hickam’s Dictum, a Case of Chronic Granulomatous Disease and CVID-Like Hypogammaglobulinemia
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Hickam’s Dictum, a Case of Chronic Granulomatous Disease and CVID-Like Hypogammaglobulinemia
Jamie Fried et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Homozygous C2 Deficiency with Hyper IgE Discovered in Adulthood After Persistently Low CH50
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Homozygous C2 Deficiency with Hyper IgE Discovered in Adulthood After Persistently Low CH50
Kasama Manothummetha et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Human Inherited RORγT Deficiency: Genetic Heterogeneity, Immunological Impact, and Clinical Homogeneity
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Human Inherited RORγT Deficiency: Genetic Heterogeneity, Immunological Impact, and Clinical Homogeneity
Iris Fagniez et al · Rockefeller University Press · 2026 · ISSN 3065-8993
We previously reported that inherited human retinoic acid-related orphan receptor gamma T (RORγT) deficiency underlies mycobacterial disease and chronic mucocutaneous candidiasis (CMC) in seven patients from three ances...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Hypomorphic SCID Due to LIG4 Deficiency Not Detected on Newborn Screening
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Hypomorphic SCID Due to LIG4 Deficiency Not Detected on Newborn Screening
Layla Samandi et al · Rockefeller University Press · 2026 · ISSN 3065-8993
DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes
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IRF4 p.T95R Combined Immunodeficiency: Clinical Features and Transplant Outcomes
Mattison P. Stojcic et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionInborn errors of interferon response factors (IRFs) are a subset of monogenic inborn errors of immunity, occurring as a result of damaging variants in the IRF genes. Of these diseases, IRF4 deficiencies are a...
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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Learning From Loss: Early Identification of ADA-SCID After Sibling Mortality
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Learning From Loss: Early Identification of ADA-SCID After Sibling Mortality
Amal Farooq et al · Rockefeller University Press · 2026 · ISSN 3065-8993
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...
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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Novel FOXN1 Variant as Cause of Neonatal T Cell Lymphopenia
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Novel FOXN1 Variant as Cause of Neonatal T Cell Lymphopenia
Sonia Joshi et al · Rockefeller University Press · 2026 · ISSN 3065-8993
In the last decade, diagnostic detection of severe combined immune deficiency (SCID) has improved with the widespread implementation of universal newborn screening (NBS) for SCID in the United States. Our case identifies...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?
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Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?
Dimana Dimitrova et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Hematopoietic cell transplantation (HCT) offers curative potential for inborn errors of immunity (IEI) patients, who often enter HCT with significant comorbidities and disease sequelae, active infections, and/or limited ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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STAT1 Gain-of-Function with a Novel Clinical Manifestation: Recurrent Pancreatitis Associated with Hypertriglyceridemia and Anti-GPIHBP1 Autoantibodies
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STAT1 Gain-of-Function with a Novel Clinical Manifestation: Recurrent Pancreatitis Associated with Hypertriglyceridemia and Anti-GPIHBP1 Autoantibodies
Areum Shin et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Patients with STAT1 gain-of-function (GOF) variants may present not only with chronic mucocutaneous candidiasis and other forms of immunodeficiency but also with a broad-spectrum of autoimmune manifestations, for which J...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Successful Allogeneic Hematopoietic Cell Transplantation in Two Patients with IL-12Rβ1 Deficiency
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Successful Allogeneic Hematopoietic Cell Transplantation in Two Patients with IL-12Rβ1 Deficiency
Alexandra Freeman et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IL-12Rβ1 deficiency is thought to be the most common etiology of Mendelian susceptibility to mycobacterial disease with incomplete penetrance and variable expressivity. Allogeneic hematopoietic cell transplantation (HCT...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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