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7,939 Possible Causes for B, T, and, cell, combined, Immunodeficiency, inborn

  • Severe Combined Immunodeficiency

    Abstract The management of patients with IL-7Rα deficient, T-B NK severe combined immunodeficiency (SCID) is a challenge in absence of adequate diagnostic and treatment modalities[ncbi.nlm.nih.gov] Based on immunological findings, he had a T- B SCID phenotype.This report suggests that in rare cases, engrafted maternal T cell might persist for long time leading to partial[ncbi.nlm.nih.gov] […] in individuals with non-functional immune systems SCID Severe combined immunodeficiency Severe combined immunodeficiency disease (disorder) combined T and B cell inborn immunodeficiency[wikidata.org] […] with Artemis-SCID cells.[ncbi.nlm.nih.gov] Laboratory studies confirmed the diagnosis of T-B-NK SCID and molecular studies revealed homozygous mutations in the RAG2 gene.[ncbi.nlm.nih.gov] Abstract Hereditary folate malabsorption is a rare inborn error of metabolism due to mutations in the proton-coupled folate transporter (PCFT).[ncbi.nlm.nih.gov] BACKGROUND: Signaling through the T-cell receptor (TCR) is critical for T-cell development and function.[ncbi.nlm.nih.gov]

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  • X-Linked Severe Combined Immunodeficiency

    CD27 is a marker of memory B cells.[ncbi.nlm.nih.gov] He had very few alpha beta T cells but had a considerable number of gamma delta T cells in his peripheral blood.[ncbi.nlm.nih.gov] Primary immunodeficiency diseases. JAMA. 1997; 278 :1835–41. [ PubMed : 9396644 ] Puck JM. X-linked severe combined immunodeficiency.[ncbi.nlm.nih.gov] J Clin Immunol 20: 94–100 PubMed CrossRef Google Scholar Filipe-Santos O, Bustamante J, Chapgier A et al. (2006) Inborn errors of IL-12/23- and IFN-gamma-mediated immunity[doi.org] T-cell counts and a delayed response to mitogens.[ncbi.nlm.nih.gov] Notarangelo LD, Mazzolari E, Porta F, Bredius RG, Lankester AC, Wulffraat NM, Seger R, Güngör T, Fasth A, Sedlacek P, Neven B, Blanche S, Fischer A, Cavazzana-Calvo M, Landais P, Inborn[doi.org] […] of CD45RA T cells was observed, resulting in 10% CD45RA T cells by 7 to 9 wk of age.[ncbi.nlm.nih.gov]

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  • LIG4 Syndrome

    We report here on a case of LIG4 syndrome complicated with distinct EBV-associated B-cell lymphoma.[ncbi.nlm.nih.gov] Test Catalog Invitae T-B-NK Severe Combined Immunodeficiency (SCID) Panel Test description The Invitae T-B-NK Severe Combined Immunodeficiency ( SCID ) Panel analyzes 6 genes[invitae.com] Genetic Diseases, Inborn Bloom syndrome. Genetic Diseases, Inborn Cloning, overexpression and nucleotide sequence of a thermostable DNA ligase-encoding gene.[brenda-enzymes.org] Herein, we report two siblings with a novel DNA ligase IV mutation, one of whom underwent hematopoietic stem cell transplantation (HSCT).[bloodjournal.org] CD19-positive B cells were isolated from peripheral blood mononuclear cells from normal individuals using Dynabeads M-450 CD19 (Dynal).[jem.rupress.org] Patient T cells show 2 peaks for CD3 T cells at 1 hour postirradiation (absent at 24 hours).[bloodadvances.org] Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006 Jan;36(1):224-35.[humpath.com]

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  • Reticular Dysgenesis

    However, B cells and monocytes appear to be relatively spared in this case of RD.[ncbi.nlm.nih.gov] When T cells were present and analyzed, they were often maternal T cells that had crossed the placenta, 4 , 12 but some patients had residual T cells.[doi.org] What is severe combined immunodeficiency (SCID)?[gosh.nhs.uk] Schuetz C 1 , Jacobsen EM 1 , Schulz AS 1 , Schwarz K 3, 4 , Fischer A 27 , Friedrich W 1 , Cavazzana M 2 ; European Society for Blood and Marrow Transplantation (EBMT) Inborn[ncbi.nlm.nih.gov] By contrast, Langerhans cells, which are CD1a-positive epidermal dendritic cells, were absent in all (n 5) patients before bone marrow transplantation.[ncbi.nlm.nih.gov] Reticular dysgenesis is the most severe form of inborn SCID.[ncbi.nlm.nih.gov] Immature bone marrow cells of both myeloid and lymphoid lineages were found in much greater proportions than were mature cells; pre-B cells outnumbered B cells by more than[ncbi.nlm.nih.gov]

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  • Adenosine Deaminase Deficiency

    B cells.[ncbi.nlm.nih.gov] […] carrier individual and was associated with increased T-lymphocyte counts and improvement of the patient's immune function.[ncbi.nlm.nih.gov] […] toxic metabolites which are elevated in ADA-deficient immunodeficient children.[ncbi.nlm.nih.gov] Two inborn errors of purine metabolism, deficiencies of adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), result in defective lymphoid development and aberrant[ncbi.nlm.nih.gov] Abstract Severe combined immunodeficiency disease with adenosine deaminase deficiency was reported of a 1-year-2-month-old boy, who showed clinical picture of pulmonary candidiasis[ncbi.nlm.nih.gov] ICD-10-CM D81.3 is grouped within Diagnostic Related Group(s) (MS-DRG v 36.0): 642 Inborn and other disorders of metabolism Convert D81.3 to ICD-9-CM Code History 2016 (effective[icd10data.com] This combination of features has not been previously reported.[ncbi.nlm.nih.gov]

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  • Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency

    […] negative/NK-cell negative due to adenosine deaminase deficiency Severe combined immunodeficiency autosomal recessive T-cell-negative/B cell-negative/NK cell-negative due[uniprot.org] Among the various types of severe combined immunodeficiency, enzyme deficiencies are relatively less common.[ncbi.nlm.nih.gov] Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and European Society for Immunodeficiency.[springermedizin.de] Al Ghonaium A, Speckmann C, Fischer A, Mahlaoui N, Nichols KE, Grunebaum E, Al Zahrani D, Roifman CM, Boelens J, Davies EG, Cavazzana-Calvo M, Notarangelo L, Gaspar HB; Inborn[ada-scid.online] Although previous haploidentical bone marrow transplants have been attempted in ADA-deficient SCID, complete reconstitution of both B-lymphocyte and T-lymphocyte function[ncbi.nlm.nih.gov] J Clin Immunol 20: 94–100 PubMed CrossRef Google Scholar Filipe-Santos O, Bustamante J, Chapgier A et al. (2006) Inborn errors of IL-12/23- and IFN-gamma-mediated immunity[doi.org] Despite this heterogeneity a consistent pattern was observed, in which levels of abnormal purine metabolites paralleled the severity of the immunodeficiency.[ncbi.nlm.nih.gov]

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  • Primary Immune Deficiency Disorder

    X-linked SCID is characterized by the absence of T and NK cells but a normal number of dysfunctional B cells (T– B NK– SCID).[emedicine.medscape.com] Here, we review the role of regulatory T-cell deficits in mediating the immune dysregulation associated with certain primary immune deficiency disorder syndromes.[journals.lww.com] Deficiency Syndrome , Immunological Deficiency Syndromes , Syndrome, Immunologic Deficiency , Syndrome, Immunological Deficiency , Syndromes, Immunologic Deficiency , Syndromes[fpnotebook.com] In a healthy human being, the body has an inborn defense system against disease called natural immunity.[mountsinai.org] The International Union of Immunological Societies Expert Committee categorizes PIDs into nine different categories: 1) combined immunodeficiencies, 2) combined immunodeficiencies[blueprintgenetics.com] New clinical investigations suggest that CD may be caused by inborn errors of macrophages.[jem.rupress.org] Inborn Errors of NF-kB Immunity: Genetic, Immunological, and Clinical Heterogeneity Capucine Picard, Jordan S.[oxfordmedicine.com]

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  • Wiskott Aldrich Syndrome

    […] found in autoreactive B cells.[ncbi.nlm.nih.gov] Whether WAS mutations differentially influence the T-cell receptor (TCR) diversity of different T-cell subsets is unknown.[ncbi.nlm.nih.gov] Some people have all three classic symptoms; including: low platelets, immunodeficiency, and eczema while others experience only low platelet counts and bleeding.[immunedisease.com] 4, 19 ; Eurocord, Cord Blood Committee of Cellular Therapy and Immunobiology Working Party of the EBMT, Federal University of Parana, Duke University Medical Center and Inborn[ncbi.nlm.nih.gov] KEYWORDS: Kappa-deleting recombination excision circles;; Newborn screening;; Severe combined immunodeficiency; T cell receptor excision circles;; Wiskott–Aldrich syndrome[ncbi.nlm.nih.gov] Eosinophilia has been reported with many primary immunodeficiencies including severe combined, combined, humoral, phagocytic and innate immunodeficiencies.[doi.org] Blood Coagulation Disorders, Inherited Blood Coagulation Disorders Hematologic Diseases Hemorrhagic Disorders Lymphopenia Leukopenia Leukocyte Disorders Genetic Diseases, Inborn[clinicaltrials.gov]

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  • Purine-Nucleoside Phosphorylase Deficiency

    Biochemical mechanisms were investigated by measuring deoxyguanosine and guanosine metabolism in normal T and B lymphoblasts and NP-deficient B lymphoblasts.[biochemj.org] This selective cellular immunodeficiency was inherited as an autosomal recessive trait: two older sisters had the same immunodeficiency.[ncbi.nlm.nih.gov] ICD-10-CM D81.5 is grouped within Diagnostic Related Group(s) (MS-DRG v 36.0): 642 Inborn and other disorders of metabolism Convert D81.5 to ICD-9-CM Code History 2016 (effective[icd10data.com] Here, we report a PNP-deficient patient who presented early in life with clinical and laboratory characteristics of severe combined immunodeficiency, including severe infections[ncbi.nlm.nih.gov] Abstract Cultured skin fibroblasts from a patient with T-cell immune deficiency and an absence of purine nucleoside phosphorylase activity in red cells were assayed for their[ncbi.nlm.nih.gov] […] pyrophosphokinase overactivity Secondary orotic aciduria Thiopurine methyltransferase deficiency Uridine monophosphate hydrolase deficiency Xanthinuria Clinical Information An inborn[icd9data.com] Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities[pediatrics.aappublications.org]

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  • Cartilage Hair Hypoplasia

    […] medical history indicated neonatal dwarfism, recurrent ear, nose and throat and respiratory infections, and hypogammaglobulinaemia, which were suggestive of a primary minor B-cell[ncbi.nlm.nih.gov] However, the in vitro impairment of T cell function cannot solely be explained by imbalance between 'naive' and 'memory' T cells.[ncbi.nlm.nih.gov] RESULTS: In infancy the children presented a combined T cell and B cell immunodeficiency which partly resolved in time.[ncbi.nlm.nih.gov] On behalf of the Inborn Error Working Party of the European Bone Marrow Transplantation (EBMT) group.[bloodjournal.org] We studied peripheral blood mononuclear cells (PBMC) of a boy with CHH and combined immunodeficiency in an attempt to characterize further the immune defect in this disease[ncbi.nlm.nih.gov] RESULTS: The testicular size was subnormal in some patients, but the serum concentrations of testosterone, inhibin B and gonadotrophins were usually normal.[ncbi.nlm.nih.gov] ., Inborn Error Working Party of the European Bone Marrow Transplantation (EBMT) Group.[ncbi.nlm.nih.gov]

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