10,000 Matching Annotations
  1. Last 7 days
  2. 54.241.53.176 54.241.53.176
    Immediate Icing Disrupts the Very Early MCP-1/CCR2 Recruitment Window and Delays Muscle Regeneration in Rats | American Journal of Physiology-Cell Physiology | American Physiological Society
    8
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    54.241.53.176/e8d26186c0ca3ba88fa938b8a56af7eb74d014fc/tamari-et-al-2026-immediate-icing-disrupts-the-very-early-mcp-1-ccr2-recruitment-window-and-delays-muscle-regeneration-html.html
  3. www.sciencedirect.com www.sciencedirect.com
    Development of an in vivo, screenable, split-luciferase based model of huntingtin multimerization
    4
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    sciencedirect.com/science/article/pii/S2589004226020365
  4. www.sciencedirect.com www.sciencedirect.com
    Erk inhibitors intercept Erk-mediated negative feedback while imposing cell-cycle arrest and activating p38
    17
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    sciencedirect.com/science/article/pii/S2589004226020055
  5. www.sciencedirect.com www.sciencedirect.com
    Chlorotoxin suppresses melanoma vasculogenic mimicry via LINC01235/miR-128-3p/YY1/ VEGFR2/NRP1 axis
    4
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    sciencedirect.com/science/article/pii/S2589004226019188
  6. www.sciencedirect.com www.sciencedirect.com
    Exercise order in school-based concurrent training for adolescents with obesity
    2
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    sciencedirect.com/science/article/pii/S2589004226015117
  7. 54.241.53.176 54.241.53.176
    '-html.html
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    54.241.53.176/b66822b2907bb6d00b9e83a81725f62d71cd041a/'-html.html
  8. www.sciencedirect.com www.sciencedirect.com
    Framework for evaluating in vitro vasculogenic mimicry using structural and metabolic parameters
    28
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    sciencedirect.com/science/article/pii/S266723752600216X
  9. www.sciencedirect.com www.sciencedirect.com
    A standardized and reproducible behavioral framework to elicit multiple aspects of visual spatial attention in mice
    9
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    sciencedirect.com/science/article/pii/S2667237526002158
  10. www.sciencedirect.com www.sciencedirect.com
    Striatal neuron dysfunction in C9ORF72-FTD/ALS is driven by AIS and potassium channel dysregulation
    13
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    sciencedirect.com/science/article/pii/S2211124726007503
  11. www.sciencedirect.com www.sciencedirect.com
    Double-ring assembly of mpox virus I3L reveals an unconventional mechanism for ssDNA engagement
    15
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    sciencedirect.com/science/article/pii/S2211124726007370
  12. www.sciencedirect.com www.sciencedirect.com
    Combining genotoxic gut bacterial strains increases tumor burden and accelerates onset in a germ-free mouse model of colon carcinogenesis
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    sciencedirect.com/science/article/pii/S2211124726007230
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Spatially local inhibition and synaptic plasticity together enable dynamic, context-dependent integration of parallel sensory pathways
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13330012/
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A model of Helicobacter infection using an artificial liver constructed by a radial-flow bioreactor
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13323259/
  15. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Lactoferrin-Templated Silver Peroxide Nanoparticles Reinforced Core–Shell Microneedle for Diabetic Infected Wound Sequential Therapy
    2
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    onlinelibrary.wiley.com/doi/10.1002/smll.74520
  16. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Chemotype-Resolved Cytoprotection of CAM Hydrothermal Extracts Validated in 2D/3D Fibroblast Models and Supported by In Silico Target Profiling
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71484
  17. onlinelibrary.wiley.com onlinelibrary.wiley.com
    o-Coumaric Acid Promotes Angiogenesis and Wound Healing Under Hyperglycemic Stress Through Modulation of Oxidative Stress and Inflammation
    2
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.202503717
  18. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Modular Assembly of Bioconjugates Enabled by a Pyridine-Based Chemoselective Sequential Conjugation Platform
    1
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    onlinelibrary.wiley.com/doi/10.1002/ange.3286230
  19. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genes Associated With Fracture Risk in Thoroughbred Horses Have Novel Roles in Osteogenesis
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    onlinelibrary.wiley.com/doi/10.1002/age.70166
  20. advanced.onlinelibrary.wiley.com advanced.onlinelibrary.wiley.com
    PFKFB4 Deubiquitination by USP10 Enhances Fumarate Metabolism to Orchestrate the KDM1A/Rad51 Axis and Confer Radioresistance in Lung Cancer
    27
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    advanced.onlinelibrary.wiley.com/doi/10.1002/advs.76439
  21. pathsocjournals.onlinelibrary.wiley.com pathsocjournals.onlinelibrary.wiley.com
    Mechanosensitive <fc>TRPV4</fc> immunohistochemistry improves deep learning‐based classification of ductal carcinoma <fi>in situ</fi> beyond H&E morphology
    2
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    pathsocjournals.onlinelibrary.wiley.com/doi/10.1002/2056-4538.70106
  22. 54.241.53.176 54.241.53.176
    ravichandran-et-al-2026-early-targets-and-progressive-deterioration-in-cardiac-performance-in-response-to-chronically-html.html
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    54.241.53.176/ae7ccc2e5629d2a9b44a9ee350fe5e57dcb62fb9/ravichandran-et-al-2026-early-targets-and-progressive-deterioration-in-cardiac-performance-in-response-to-chronically-html.html
  23. 54.241.53.176 54.241.53.176
    Deletion of ABIN1-LIR motifs impairs hepatic lipid homeostasis and mitophagy via AMPK-TFEB axis in mice | American Journal of Physiology-Cell Physiology | American Physiological Society
    1
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    54.241.53.176/d0512c972eb5ea99cd06a633024ed635088bbd65/huber-et-al-2025-deletion-of-abin1-lir-motifs-impairs-hepatic-lipid-homeostasis-and-mitophagy-via-ampk-tfeb-axis-in-mice-html.html
  24. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Dorsal prefrontal cortex drives perseverative behavior in mice
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    pmc.ncbi.nlm.nih.gov/articles/PMC13324276/
  25. www.anthropic.com www.anthropic.com
    A global workspace in language models
    1
    1. fxp007 09 Jul 2026
      Representations in the J-space can be used flexibly for many tasks—for example, once “France” has lit up in Claude’s J-space, the model can recall its capital, or its national currency, or the continent it belongs to.

      In Mind

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    anthropic.com/research/global-workspace
  26. localhost:6960 localhost:6960
    Occupation du sol
    2
    1. Tom_B 09 Jul 2026
      d’usages de sols résidentiel (US 5)

      Je pars de l'hypothèse que les particuliers ne respectent pas cette loi, est-ce qu'il en va de même pour les entreprises privées ? Si oui, il faudrait considérer l'usage du sol 2, 3 et 5 (production secondaire, tertiaire et résidentiel) avec le risque d'inclure des espaces publics.

    2. Tom_B 09 Jul 2026
      Marais salants (MRS);

      J'avais en tête, pour une raison que j'ignore, que les marais salants étaient l'endroit où se cultive la salicorne...

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    localhost:6960/
  27. hypothes.is hypothes.is
    Hypothesis
    4
    1. gyuri 09 Jul 2026

      This salient and significant post is no longer online

      Use the internet archive to get a saved copy

      then personally archive it permanently on IPFS

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    hypothes.is/users/gyuri
  28. arcana-network.medium.com arcana-network.medium.com
    IPFS and Its Drawbacks
    3
    2. gyuri 09 Jul 2026

      💻/thinkpad/🧊/me/📓/2026/6/1/9/gotcha-ipfs.CID.versions/IPFS~drawback-by-arcana.network%40mediuml%40v0.html

      https://bafybeibwpwyj5gdhttrlmrrmtveryvacvrxeisg7gfg3vzxvi3a6vu424q.ipfs.inbrowser.link/?filename=IPFS~drawback-by-arcana.network@medium@v0.html

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    arcana-network.medium.com/ipfs-and-its-drawbacks-a97613331f08
  29. blogs.thomsonreuters.com blogs.thomsonreuters.com
    The future is graph shaped | Thomson Reuters
    1
    1. indyweb 09 Jul 2026
      combining global authoritative perspective

      combining global authoritative perspective with their own organisational knowledge, yielding high-value, locally contextualised answers and insights.

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    blogs.thomsonreuters.com/answerson/future-graph-shaped/
  30. tesda-course.pages.dev tesda-course.pages.dev
    Lesson 6 · Follow Guided Steps for Multi-Step Math — TESDA Foundational Skills
    2
    1. emmieorbon 09 Jul 2026
      her cash advance of PHP 200

      The cash advance should be included in the table rather than only in the solution steps, as it is a key piece of information needed to solve the problem. Presenting it in the table makes it more visible and reduces the likelihood that learners will overlook it.

    2. emmieorbon 09 Jul 2026
      20 percent as the decimal 0.20 first.

      It would also be helpful to include a brief explanation that converting a percent to a decimal simply means dividing the percent by 100 (e.g., 20 ÷ 100 = 0.20) or moving the decimal point two places to the left. This will help learners understand the conversion process rather than just memorizing the rule.

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    tesda-course.pages.dev/build/num-2a-l6
  31. lemo-preview.pages.dev lemo-preview.pages.dev
    CH04 API machinery · K8s 底層原理
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    lemo-preview.pages.dev/learning/k8s-internals/04-api-machinery/
  32. review-67b364.pages.dev review-67b364.pages.dev
    在线批注测试报告 · hypothesis-annotator
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    review-67b364.pages.dev/r/test-demo/
  33. plustar35.github.io plustar35.github.io
    在线批注测试报告 · hypothesis-annotator
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    plustar35.github.io/report-review/r/test-demo/
  34. tesda-course.pages.dev tesda-course.pages.dev
    Lesson 5 · Do Basic Arithmetic for Daily Tasks — TESDA Foundational Skills
    1
    1. emmieorbon 09 Jul 2026
      Find the discount: 5 percent of 2,400 is 2,400 / 100 x 5 = 120 pesos.

      I suggest showing another way of computing the discount or presenting the formula:

      Discount Amount = Original Price × (Discount % ÷ 100)

      This alternative method can help learners better understand the process and reduce potential confusion when they are presented with the formula.

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    tesda-course.pages.dev/build/num-2a-l5
  35. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry
    2
    1. Vibhor 09 Jul 2026
      P06FGerman52uk*T72PReduced2.39Pathogenic––uk47.37Severely affectedAlive

      Case#: P06. Female, German, 52 years old at the time of clinical diagnosis, Alive at the time of publication

      DiseaseAssertion: classified as "Severely affected" based on a CHAI score of 47.37%

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs:N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: The percentage of transendocytosis using either CD80-GFP or CD80-mScarlet CHO cells was determined in eight LRBA-deficient patients. No difference in the percentage of transendocytosis was observed between CTLA4-variant carriers (GFP median=5.4%; mScarlet median= 49.8%) and LRBA-deficient patients (GFP median=9.9%; mScarlet median, 48.6%). However, significantly lower percentages of transendocytosis were observed in LRBA-deficient patients compared to healthy donors (HD) when using CD80-mScarlet CHO cells (median, 48.6% vs. 65.5% in HD) (Fig. ​(Fig.4e),4e). This difference was not observed with CD80-GFP CHO cells (patients median of 9.9% in patients vs. 13.9% in HD). In conclusion, the CTLA4 transendocytosis method using CD80-mScarlet CHO cells enables the functional verification of LRBA deficiency, but it cannot differentiate between LRBA deficiency and CTLA4 insufficiency.

      GenotypingMethod: NGS and Sanger sequencing

      PreviouslyPublished: N/A

      Variant: NM_005214.5(CTLA4):c.214A>C (p.Thr72Pro)

      ClinVar ID: 546886

      gnomAD: not found

      SupplementalData: Yes, all data regarding the patient was found in Table1.

      Gene:CTLA4 HGNC:2505 InheritancePattern:AutosomalDominant DiseaseEntity:CHAI AlleleOrigin:Germline Zygosity:Heterozygous “ClinVarID:546886” PreviousTesting SupplementalData Ab Deficiencies VCEP
    2. Vibhor 09 Jul 2026
      P04Mukuk71.4A54TReduced2.04Pathogenic49.8Pathogenic[9]NANADead

      Case#: P04, male, genetic diagnosis at the age of 71.4, ethnicity: N/A, Dead at the time of article's publication

      DiseaseAssertion: N/A

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs:N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: The percentage of transendocytosis using either CD80-GFP or CD80-mScarlet CHO cells was determined in eight LRBA-deficient patients. No difference in the percentage of transendocytosis was observed between CTLA4-variant carriers (GFP median=5.4%; mScarlet median= 49.8%) and LRBA-deficient patients (GFP median=9.9%; mScarlet median, 48.6%). However, significantly lower percentages of transendocytosis were observed in LRBA-deficient patients compared to healthy donors (HD) when using CD80-mScarlet CHO cells (median, 48.6% vs. 65.5% in HD) (Fig. ​(Fig.4e),4e). This difference was not observed with CD80-GFP CHO cells (patients median of 9.9% in patients vs. 13.9% in HD). In conclusion, the CTLA4 transendocytosis method using CD80-mScarlet CHO cells enables the functional verification of LRBA deficiency, but it cannot differentiate between LRBA deficiency and CTLA4 insufficiency.

      GenotypingMethod: NGS and Sanger sequencing

      PreviouslyPublished: N/A

      Variant: NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr)

      ClinVar ID: 430905

      gnomAD: not found

      SupplementalData: Yes, all data regarding the patient was found in Table1.

      Gene:CTLA4 HGNC:2505 InheritancePattern:AutosomalDominant DiseaseEntity:CHAI AlleleOrigin:Germline Zygosity:Heterozygous “ClinVarID:430905” PreviousTesting SupplementalData Ab Deficiencies VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC10661720/
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3930011/
  37. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Activated PI3Kδ syndrome – reviewing challenges in diagnosis and treatment
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC10432830/
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Case report: Pediatric patient with severe clinical course of CTLA-4 insufficiency treated with HSCT
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11609194/
  39. www-clinicalkey-com.libproxy.lib.unc.edu www-clinicalkey-com.libproxy.lib.unc.edu
    Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing - ClinicalKey
    2
    1. Vibhor 09 Jul 2026
      female patient

      Case#: case_Kiyota_2018, female,1 yo (onset), Japanese ancestry reported

      DiseaseAssertion: APDS + 22q13 deletion syndrome

      FamilyInfo: de novo

      CasePresentingHPOs: (HP:0001973, HP:0000969, HP:0011134, HP:0000123, HP:0000093, HP:0003073, HP:0004431, HP:0003493, HP:0020151, HP:0033604, HP:0001263, HP:0001290, HP:0000729, HP:0002463, HP:0001249, HP:0007021, HP:0012433

      ITP systemic edema mild fever lupus nephritis proteinuria hypoalbuminemia decreased complement levels antinuclear antibody double strand DNA antibody wire-loop lesions in glomeruli delayed psychmotor development hypotonia autistic features language delay intellectual disability reduced sensitivity to pain poor social functioning

      CaseHPOFreeText: positive staining for IgG, IgA, IgM, C3 and C1q and electron-dense deposits observed through renal biopsy, along with wire-loop lesions

      CaseNotHPOs: (HP:0030882, 0010783, HP:0030880) coronary aneurysm butterfly erythema Raynaud's phenomenon

      CaseNotHPOFreeText: dysmorphic features

      CasePreviousTesting: G-band karyotyping + whole genome SNP microarray revealed 22q13 deletion syndrome

      GenotypingMethod: WES

      PreviouslyPublished:

      Variant: NM_005026.3:c.1534C > T; p.(Arg512Trp)

      ClinVarID: 1347382

      CAID: CA577258

      gnomAD: v2.1.1 Grpmax 0.00007392 (4/18252 alleles) East Asian population

      SupplementalData:

      InheritancePattern:AutosomalDominant Mutation:Missense Zygosity:Heterozygous DeNovo DiseaseEntity:APDS ClinVarID:1347382 ClinicalStatus:Symptomatic Gene:PIK3CD HGNC:8977 DevelopmentalDelay AutoimmuneCytopenia Ab Deficiencies VCEP
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    www-clinicalkey-com.libproxy.lib.unc.edu/
  40. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Activating de novo monoallelic variants causing inborn errors of immunity in two unrelated children born of HIV-seroconcordant couples
    1
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    pubmed.ncbi.nlm.nih.gov/36382434/
  41. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Immune dysregulation from a novel CTLA-4 haploinsufficiency variant
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12829747/
  42. www.jacionline.org www.jacionline.org
    Hematopoietic stem cell transplantation for CTLA4 deficiency
    1
    1. Vibhor 09 Jul 2026
      c.518G>A

      Case#:1/M. 1.5 y.o. (onset) and 14 y.o. (at assessment), male

      DiseaseAssertion: Patient had arthritis, neutropenia and thrombocytopenia, lymphadenopathy, and abdominal pain. The diagnosis of CTLA4 haploinsufficiency was made retrospectively in 7 patients who underwent HSCT for life-threatening, treatment-resistant immune dysregulation and in 1 patient prospectively (unclear which patients were identified retrospectively and prospectively).

      FamilyInfo: Father was noted to have Immune dysregulation, Cytopenias and Lymphoma. The patient's father was also noted to have a complex autoimmune disease and died after autologous HSCT for non-Hodgkin lymphoma.

      CasePresentingHPOs: HP:0001369 (Arthritis), HP:0001875 (Neutropenia), HP:0001873 (Thrombocytopenia), HP:0002716 (Lymphadenopathy), HP:0002027 (Abdominal pain), HP:0002720 (Decreased circulating IgA level).

      CaseHPOFreeText: Autoimmune pancytopenia, Recurrent abdominal pain, Arthritis

      This patient was offered HSCT because of ongoing autoimmunity and risk of lymphoma because his father had complex autoimmune disease and died after autologous HSCT for non-Hodgkin lymphoma.

      All 8 patients received steroids and a calcineurin inhibitor before transplant

      Five patients (including this patient) had peripheral blood HSC grafts and received cyclosporine and mycophenolate mofetil (MMF) for graft versus host disease (GvHD) prophylaxis.

      Patient had cytomegalovirus reactivation early post-HSCT and autoimmune hemolytic anemia 6 months post-HSCT, which responded to steroids; he is now off all medication.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Patient has low levels of IgA but IgG and IgM levels appear to be within normal range. See Table I.

      CasePreviousTesting: Not found

      GenotypingMethod: Not found

      PreviouslyPublished: Yes, Schwab et al. PMID: 29729943

      Variant: c.518G>A, p.G173E

      ClinVarID: N/A

      CAID: CA350138990

      gnomAD: Not found

      SupplementalData: More information regarding Lymphocyte subsets and Immunoglobulins in Table I. Table II contains variant information and Table III contains further details about HSCT and a breakdown of each patient's transplant procedure.

      Note: No mention of whether or not the patient was tested using transendocytosis.

      Gene:CTLA4 HGNC:2505 CAID:CA350138990 ClinicalStatus:Symptomatic Cytopenia:Reported FamilyInfo Supplemental Data Arthritis:Reported Neutropenia:Reported Thrombocytopenia: Reported Lymphadenopathy: Reported AbdominalPain:Reported HSCT AutoimmunePancytopenia:Reported RecurrentAbdominalPain:Reported Lymphocyte Subsets Immunoglobulin Data Variant Information Transplant Procedure Ab Deficiencies VCEP
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    jacionline.org/article/S0091-6749(16)00380-8/fulltext
  43. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5566055/
  44. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical Challenges: Identification of Patients with Novel Primary Immunodeficiency Syndromes
    2
    1. Vibhor 09 Jul 2026
      one patient with cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency

      Case#: Buchbinder_2019_Patient 1, female, 11 y.o. (onset) 21 y.o. (report), Caucasian

      DiseaseAssertion: cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency

      FamilyInfo: "maternal history of vitiligo, hypothyroidism, a maternal grandmother with hypothyroidism, and a maternal great grandmother with multiple sclerosis." mutation was present in the mother, maternal grandmother, and absent in the father.

      CasePresentingHPOs: HP:0002113, HP:0001085, HP:0032070, HP:0000988, HP:0002027, HP:0002017, HP:0002014, HP:0001433, HP:0001973, HP:0004313, HP:0001888, HP:0001875, HP:0033608, HP:0002716, HP:0033583, HP:0002729, HP:0001945, HP:0032154, HP:0002829, HP:0032366, HP:0032296, HP:0005479, HP:0100633, HP:0004295, HP:0100279, HP:0032203, HP:0002633, HP:0030374, HP:0045080, HP:0005415, HP:0001882, HP:0002315, HP:0000505, HP:0001250, HP:0000225, HP:0001873

      (nodular pulmonary infiltrates, papilledema, leptomeningeal enhancement, recurrent rashes, abdominal pain, vomiting, diarrhea, hepatosplenomegaly, immune cytopenias, hypogammaglobulinemia, lymphopenia, neutropenia, pulmonary nodules, adenopathy, lymphocytic pleocytosis, follicular bronchiolitis, follicular lymphoid hyperplasia, fevers, aphthous ulcerations, arthralgias, presence of direct antiglobulin, elevated IgG level, decreased IgE level, chronic esophagus inflammation, gastric mucosa inflammation, colon inflammation, intramucosal lymphoid nodules in colon, vasculitis, decreased memory B cells, decreased CD3+T, decreased CD8+T, decreased WBC, headache, decreased vision, seizures, gum bleeding, thrombocytopenia)

      CaseHPOFreeText: autoantibodies were absent except for a positive direct antiglobulin test. Improvement with corticosteroids, faint oligoclonal bands documented yet absent on subsequent evaluation. brain lesions, elevated CD19+B, decreased NK,

      CaseNotHPOs: abnormal bone marrow, abnormal bronchoscopy, abnormal IgA, abnormal IgM, positive anti neuronal antibody test

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: none

      GenotypingMethod: Sanger sequencing of CTLA4

      PreviouslyPublished: not reported

      Variant: heterozygous for NM_005214.5:c.151C>T

      ClinVarID: 161109

      CAID: CA173992

      gnomAD: not found

      SupplementalData: none

      Gene:CTLA4 HGNC:2505 InheritancePattern:AutozomalDominant DiseaseEntity:CHAI Zygosity:Heterozygous ClinVarID: 161109 CAID: CA173992 Cytopenia:Reported Splenomegaly:Reported Diarrhea:Reported Hypogammaglobulinemia:Reported Lymphadenopathy:Reported LymphocyteNumber:Low FamilyInfo AlleleOrigin:Germline Ab Deficiencies VCEP
    2. Vibhor 09 Jul 2026
      Clinical Challenges: Identification of Patients with Novel Primary Immunodeficiency Syndromes

      PMID: 29200144

      Gene: CTLA4, PIK3CD

      HGNC: 2505,

      Disease: CTLA-4 haploinsufficiency, APDS/PASLI

      MONDO: MONDO:0014493, MONDO:0018338

      InheritancePattern: AD (haploinsufficiency), AD

      Prevalence: <1 in 1,000,000. <1 in 1,000,000

      Penetrance: The penetrance of the phenotype among carriers of pathogenic variants is incomplete, incomplete

      Note: The authors say PI3KCD throughout the article, but I believe they meant PIK3CD.

      ClinGen General Gene:CTLA4 HGNC:2505 Ab Deficiencies VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5984070/
  45. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
    1
    1. Vibhor 09 Jul 2026
      2.1 Case report

      Case#: 2-month-old boy

      DiseaseAssertion:

      FamilyInfo: One healhy brother, noncontributory

      CasePresentingHPOs: HP:0025104(Capillary malformation) HP:0004691(2-3 toe syndactyly) HP:0001520(Large for gestational age) HP:0001548(Overgrowth) HP:0033725(Thin corpus callosum) HP:0004315(Decreased circulating IgG level) HP:0002720(Decreased circulating IgA level)

      CaseHPOFreeText: At 12 months of age two ear infections occuring four weeks apart and a bilateral eye infection.

      CaseNotHPOs: HP:0012759(Neurodevelopmental abnormality) HP:0002850(Decreased circulating total IgM)

      CaseNotHPOFreeText: Segmental overgrowth was not observed. Normal newborn bloodspot and hearing screen. Ophthalmology examination is normal. No no evidence for a capillary pial vascular malformation

      CasePreviousTesting: Whole-exome sequencing and mtDNA testing

      GenotypingMethod: Exome sequencing and mtDNA testing was performed on the patient’s blood sample and cultured fibroblast from a 3 mm punch biopsy from right lower paraspinal region.

      PreviouslyPublished: No

      Variant: NM_181523.2:c.1746-2A>G p.? 9% of the proband's blood cells (74 sequencing reads) and in 25% of the cultured fibroblasts (84 sequencing reads).

      ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/variation/1298995/ germline

      CAID: CA359883172

      gnomAD: Not present in gnomAD

      Gene:PIK3R1 HGNC:8979 DeNovo AlleleOrigin:Somatic Zygosity:Other ClinVarID:1298995 CAID:CA359883172 ClinicalStatus:Symptomatic PreviousTesting Ab Deficiencies VCEP
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2271
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    CTLA4 Message Reflects Pathway Disruption in Monogenic Disorders and Under Therapeutic Blockade
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6532297/