NODOVOX | Discovery

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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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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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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Quality of Life in Patients with Severe Combined Immunodeficiency (SCID) Treated with Hematopoietic Cell Transplantation in the Modern Era: A Primary Immune Deficiency Consortium (PIDTC) Study

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Quality of Life in Patients with Severe Combined Immunodeficiency (SCID) Treated with Hematopoietic Cell Transplantation in the Modern Era: A Primary Immune Deficiency Consortium (PIDTC) Study

Lauren Sanchez et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionNewborn screening (NBS) for severe combined immunodeficiency (SCID) leads to early diagnosis and hematopoietic cell transplant (HCT). Limited studies are available on the quality of life (QoL) of SCID patient...

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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A Case of T- B- NK+ SCID Without an Identifiable SCID Mutation

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A Case of T- B- NK+ SCID Without an Identifiable SCID Mutation

Doreen Khakshour et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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A De Novo Missense Variant in DKC1 Leading to Hoyeraal-Hreidarsson Syndrome

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A De Novo Missense Variant in DKC1 Leading to Hoyeraal-Hreidarsson Syndrome

Olufolarin Oke et al · Rockefeller University Press · 2026 · ISSN 3065-8993

Hoyeraal-Hreidarsson syndrome (HHS) represents the most severe form of dyskeratosis congenita (DC), a telomere biology disorder caused by pathogenic variants in genes involved in telomere maintenance. DKC1 encodes dysker...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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A First-in-Human Base Edit Gene Therapy for CD40L Deficiency X-Linked Hyper IgM (XHIGM) Syndrome

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A First-in-Human Base Edit Gene Therapy for CD40L Deficiency X-Linked Hyper IgM (XHIGM) Syndrome

Suk See De Ravin et al · Rockefeller University Press · 2026 · ISSN 3065-8993

CD40L-deficient X-linked hyper IgM (XHIGM) syndrome is characterized by defective B cell class switching, deficiency of immunoglobulins G, A, and E, plus other immune abnormalities due to disrupted CD40L–CD40 interacti...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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A Single Institution Experience with Pediatric Hemophagocytic Lymphohistiocytosis (pHLH)

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A Single Institution Experience with Pediatric Hemophagocytic Lymphohistiocytosis (pHLH)

Selina Demetrick et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionPediatric hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening condition characterized by aberrant immunopathology and systemic manifestations. The HLH-2004 protocol prioritizes urgent immunosuppre...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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A Survey-Based Study of Reproductive Health Practices by Immunologists of the Clinical Immunology Society in Patients with Inborn Errors of Immunity

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A Survey-Based Study of Reproductive Health Practices by Immunologists of the Clinical Immunology Society in Patients with Inborn Errors of Immunity

Jessica Galant-Swafford et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionIndividuals with inborn errors of immunity (IEI) are increasingly reaching reproductive age, yet guidance on fertility preservation, genetic counseling, medication adjustments in pregnancy and breastfeeding, ...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Autologous Ex Vivo Lentiviral Gene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I Provides Sustained Efficacy with a Favorable Safety Profile

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Autologous Ex Vivo Lentiviral Gene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I Provides Sustained Efficacy with a Favorable Safety Profile

Claire Booth et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundSevere leukocyte adhesion deficiency-I (LAD-I) results from biallelic deleterious ITGB2 variants leading to deficient/defective CD18 leukocyte expression and impaired endothelial adhesion and extravasation.Chil...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Bespoke Base and Prime Editing Approaches for STING-Associated Vasculopathy with Onset in Infancy (SAVI)

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Bespoke Base and Prime Editing Approaches for STING-Associated Vasculopathy with Onset in Infancy (SAVI)

Enrico Drago et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionSTING-associated vasculopathy with onset in infancy (SAVI) is a rare, severe type I interferonopathy caused by gain-of-function mutations in STING1, leading to early-onset systemic inflammation, cutaneous vas...

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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Coronary Artery Dilation and Tortuosity in STAT3DN Hyper IgE Syndrome

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Coronary Artery Dilation and Tortuosity in STAT3DN Hyper IgE Syndrome

Amanda Urban et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundHyper IgE syndrome from dominant-negative STAT3 mutations is a multisystem disease with vascular complications. Following a myocardial infarction (MI) from a coronary artery aneurysm in a 43-year-old patient, o...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Cytokine Profile in Patients with Chronic Granulomatous Disease (CGD)

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Cytokine Profile in Patients with Chronic Granulomatous Disease (CGD)

Morna Dorsey et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionCGD is an inborn error of immunity that results in severe, recurrent bacterial and fungal infections, immune dysregulation, and chronic inflammation. Profiling the cytokine signature in CGD patients may infor...

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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Development of a Quantitative Measure of Lung Disease Severity in STAT3 Hyper-Ige Syndrome

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Development of a Quantitative Measure of Lung Disease Severity in STAT3 Hyper-Ige Syndrome

Chen Wang et al · Rockefeller University Press · 2026 · ISSN 3065-8993

IntroductionProgressive lung disease remains the leading cause of morbidity and mortality in patients with STAT3 hyper-IgE syndrome (HIES), despite optimal supportive care. Forced expiratory volume in 1 second (FEV1) is ...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Development of a Yucatan Mini-Pig Model for Deficiency of Adenosine Deaminase 2 (DADA2)

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Development of a Yucatan Mini-Pig Model for Deficiency of Adenosine Deaminase 2 (DADA2)

Teresa Tarrant et al · Rockefeller University Press · 2026 · ISSN 3065-8993

Deficiency of adenosine deaminase 2 (DADA2) was identified in 2014 as a novel inborn error of immunity caused by biallelic pathogenic variants in ADA2. DADA2 patients express two predominant clinical phenotypes: (1) auto...

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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Expanded Clinical Spectrum of Artemis SCID: A Novel DCLRE1C c.545G>A Variant with Residual T Cell Function

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Expanded Clinical Spectrum of Artemis SCID: A Novel DCLRE1C c.545G>A Variant with Residual T Cell Function

Nouf Faisal Alsaati et al · Rockefeller University Press · 2026 · ISSN 3065-8993

Artemis-deficient severe combined immunodeficiency (SCID) is a rare autosomal recessive disorder caused by pathogenic variants in DCLRE1C, which encodes ARTEMIS, a DNA repair endonuclease essential for V(D)J recombinatio...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Expanded Phenotype, Outcome, and New Insights from the Largest Single-Country Cohort of ARPC1B Deficiency

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Expanded Phenotype, Outcome, and New Insights from the Largest Single-Country Cohort of ARPC1B Deficiency

Dharmagat Bhattarai et al · Rockefeller University Press · 2026 · ISSN 3065-8993

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...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Exploration of Clusters of Rare Disease: ARPC1B Deficiency with Founder Effect in Nepal

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Exploration of Clusters of Rare Disease: ARPC1B Deficiency with Founder Effect in Nepal

Dharmagat Bhattarai et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundMore than one-fourth of the world’s burden of ARPC1B deficiency (ARPC1BD), a rare immune-actinopathy, is reported from Nepal, a resource-constrained Himalayan country with a single trained immunologist. The d...

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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