%D8%B9%D9%88%D8%B2_%D8%A7%D9%84%D9%85%D9%86%D8%A7%D8%B9%D8%A9_%D8%A7%D9%84%D9%85%D8%B4%D8%AA%D8%B1%D9%83_%D8%A7%D9%84%D8%B4%D8%AF%D9%8A%D8%AFImmunodefici%C3%A8ncia_combinada_greuSCIDSevere_Combined_ImmunodeficiencySevere_combined_immunodeficiencyInmunodeficiencia_combinada_graveRaske_kombineeritud_immuunpuudulikkusD%C3%A9ficit_immunitaire_combin%C3%A9_s%C3%A9v%C3%A8reComheaspa_imdh%C3%ADonachta_dhian%D7%9B%D7%A9%D7%9C_%D7%97%D7%99%D7%A1%D7%95%D7%A0%D7%99_%D7%9E%D7%A9%D7%95%D7%9C%D7%91_%D7%97%D7%9E%D7%95%D7%A8Defisiensi_imunitas_kombinasiImmunodeficienza_combinata_grave%EB%A9%B4%EC%97%AD%EA%B2%B0%ED%95%8D%EC%A7%88%ED%99%98Keimunokurangan_bercampur_terukSevere_combined_immunodeficiencyZesp%C3%B3%C5%82_SCID%D0%A2%D1%8F%D0%B6%D1%91%D0%BB%D1%8B%D0%B9_%D0%BA%D0%BE%D0%BC%D0%B1%D0%B8%D0%BD%D0%B8%D1%80%D0%BE%D0%B2%D0%B0%D0%BD%D0%BD%D1%8B%D0%B9_%D0%B8%D0%BC%D0%BC%D1%83%D0%BD%D0%BE%D0%B4%D0%B5%D1%84%D0%B8%D1%86%D0%B8%D1%82%D0%A2%D0%B5%D1%88%D0%BA%D0%B0_%D0%BA%D0%BE%D0%BC%D0%B1%D0%B8%D0%BD%D0%BE%D0%B2%D0%B0%D0%BD%D0%B0_%D0%B8%D0%BC%D1%83%D0%BD%D0%BE%D0%B4%D0%B5%D1%84%D0%B8%D1%86%D0%B8%D1%98%D0%B5%D0%BD%D1%86%D0%B8%D1%98%D0%B0Sv%C3%A5r_kombinerad_immunbrist%E0%B8%A0%E0%B8%B2%E0%B8%A7%E0%B8%B0%E0%B8%A0%E0%B8%B9%E0%B8%A1%E0%B8%B4%E0%B8%84%E0%B8%B8%E0%B9%89%E0%B8%A1%E0%B8%81%E0%B8%B1%E0%B8%99%E0%B8%9A%E0%B8%81%E0%B8%9E%E0%B8%A3%E0%B9%88%E0%B8%AD%E0%B8%87%E0%B8%AB%E0%B8%A5%E0%B8%B2%E0%B8%A2%E0%B8%AD%E0%B8%A2%E0%B9%88%E0%B8%B2%E0%B8%87%E0%B8%A3%E0%B8%A7%E0%B8%A1%E0%B8%81%E0%B8%B1%E0%B8%99%E0%B9%81%E0%B8%9A%E0%B8%9A%E0%B8%A3%E0%B8%B8%E0%B8%99%E0%B9%81%E0%B8%A3%E0%B8%87Q1334408%E5%9A%B4%E9%87%8D%E8%A4%87%E5%90%88%E5%9E%8B%E5%85%8D%E7%96%AB%E7%BC%BA%E4%B9%8F%E7%97%87
about
Genetic Analysis of Immune DisordersGene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) DeficiencyQuality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their ParentsSCID Bu/Flu/ATG Study With T Cell DepletionConditioning SCID Infants Diagnosed EarlyLentiviral Gene Therapy for X-linked Severe Combined ImmunodeficiencyHaplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed InfantsGene Transfer for ADA-SCID Using an Improved Lentiviral Vector (TYF-ADA)Strimvelis Registry Study to Follow-up Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)Autologous Gene Therapy for Artemis-Deficient SCIDConditioning Regimen for Allogeneic Hematopoietic Stem-Cell TransplantationEvaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs)EZN-2279 in Patients With ADA-SCIDPatients Treated for SCID (1968-Present)Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined ImmunodeficiencyPhase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan ConditioningGene Therapy for X-linked Severe Combined ImmunodeficiencySafety and Efficacy Study of Human T Lymphoid Progenitor (HTLP) Injection After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID PatientsRegistry Study of Revcovi Treatment in Patients With ADA-SCIDLentiviral Gene Therapy for Adenosine Deaminase (ADA) DeficiencyGene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1)Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune DeficienciesLong Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked ProductsGenetic Basis of ImmunodeficiencyNeonatal Screening of Severe Combined ImmunodeficienciesTreatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral VectorGeneralized Neonatal Screening of Severe Combined ImmunodeficienciesClinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in ChinaSirolimus Prophylaxis for aGVHD in TME SCIDNatural History Study of SCID DisordersHematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & FilgrastimRisk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant DiseasesFludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic MalignanciesEstablishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation DisordersNewborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk PopulationMND-ADA Transduction of CD34+ Cells From Children With ADA-SCIDGene Therapy for ADA-SCIDAllogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders
P1050
adenosine deaminase deficiencygamma chain deficiencyartemis deficiencyCD3zeta deficiencyMHC class I deficiencyrecombinase activating gene 1 deficiencyrecombinase activating gene 2 deficiencyCD45 deficiencyinterleukin-7 receptor alpha deficiencyCD3epsilon deficiencyCD3gamma deficiencycoronin-1A deficiencyMHC class II deficiencyCD3delta deficiencyOmenn syndromeT-cell immunodeficiency, congenital alopecia, and nail dystrophysevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positivesevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positiveBare lymphocyte syndromejanus kinase-3 deficiencyreticular dysgenesis
P279
P4044
Genetics of SCIDGene therapy for PIDs: progress, pitfalls and prospectsTREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic ReviewA family history of serious complications due to BCG vaccination is a tool for the early diagnosis of severe primary immunodeficiency.FOXN1 deficient nude severe combined immunodeficiency.Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency.From murine to human nude/SCID: the thymus, T-cell development and the missing link.First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.Adenosine deaminase deficiency: a review.Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 ComplexCHRONIC RETICULOENDOTHELIAL CELL STORAGE DISEASETransplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing CountriesAn immunocompetent patient with a nonsense mutation in NHEJ1 geneImmunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
P921
Q61694829-6072E2AF-5AD5-4BD9-87AE-E6E44C4B0932Q61694889-D880738D-0E84-477A-B22E-66B413D722ECQ61864941-CD2D2E5D-8B80-41B6-89AA-064F16E17E6BQ61894597-65E7F873-0F33-43B2-A23C-BDA1AAB3DF61Q61902774-E71AB324-5CB4-497E-8FBF-AAF11AD8C97CQ61907641-350C457F-CD91-4348-9969-DEE4D56DFC1EQ61907988-73B601F1-004B-4FA4-9583-D13857E47FC8Q61918085-23DD3763-4CF9-483C-B6B7-89B7DC6CB34FQ61955757-31A0698F-9213-4C24-B03D-1F2D9E44BAD2Q62025823-CD3683B0-E8D8-43C0-AFAD-CB24CCAA09B6Q62812362-849EA2DD-B0C1-410A-A9D9-EB99CAA545E0Q62812906-6AD82225-FD96-499A-8B04-A6F82ACF7C43Q62819286-34F4352B-1C05-4399-8B87-D3C6828FBD35Q63012199-BBE6573B-B790-4E9C-ADC2-EDF769AD3693Q63322243-8ECDB474-DCD3-4FB1-BF62-23046D64F36EQ63336176-632D4213-BE0F-4701-ABCB-F4F940BFD611Q63570829-7ADA72D0-8091-4D35-B82D-54ED6F0DEB33Q63571671-6826C91E-8B28-4738-8753-4FE985CFF217Q63806489-B75B9463-4C0A-457A-AB2D-D2E52EC311B4Q63808244-7602CA6B-EAB4-4E27-AB78-224CC4DC770EQ63808379-4F6CE9AD-D730-4644-8CBC-D485BC057639Q63812170-71A47F8A-5544-4102-B79A-31BC358B712DQ63830207-6F75999F-5115-413F-A1F1-684AF44207D4Q63838240-B1317555-5691-4A1E-99B2-EE1A6C3DB357Q64043913-CC63B286-FC39-4286-8A44-F4176692FD24Q64123735-25F48393-FD22-4AEF-B3DF-BF3E95546B79Q64217148-0371CAFA-11B9-4A25-8A12-38B36F06042CQ64350169-E7A9FE18-821B-462D-8C64-7A8790130FE1Q64603285-C6D41E32-5A3D-4362-8986-AD61BAEEAF46Q64607196-B041E8A7-FEEC-4F00-B736-534C7F1F4A82Q64610989-A597C3E7-5882-49CF-B3CD-A116AC1B6464Q64653350-780BDD96-0762-4606-AF73-A9DDDA3F1265Q64654373-9B5CFBEE-5091-4110-8E89-E46F5626AAF8Q64666231-EA9F49C7-09B5-4A31-971B-52CA193972AFQ64672690-E58DA768-2018-45C5-999A-B191D222DE62Q64677414-253A9394-8E4A-4D8F-AB2D-8CD34DC28AA0Q64680993-CF43F678-98AE-42A3-B7F8-0A95517EE4E6Q64709559-3E578C51-2A2D-4AB5-AFDC-840EACA781D4Q64723842-939D79D7-9764-4916-BE1D-935152F42C69Q64726952-B5054DEB-04DC-462F-AD51-66C4D17D60AB
P1050
description
Krankheit
@de
Severe Combined Immunodeficiency
@ka
combined T cell and B cell imm ...... non-functional immune systems
@en
enfermedad de nacimiento, que ...... total de sistema inmunológico
@es
grupa chorób układu odpornościowego
@pl
gruppo di malattie dove due fattori determinano l'insorgere della stessa
@it
syndrome caractérisant un grou ...... nomalie des lymphocytes T et B
@fr
σπάνια πρωτοπαθής ανοσοανεπάρκ ...... ττάρων και των Β λεμφοκυττάρων
@el
name
Comheaspa imdhíonachta dhian
@ga
Defisiensi imunitas kombinasi
@id
Inmunodeficiencia combinada grave
@es
Keimunokurangan bercampur teruk
@ms
Raske kombineeritud immuunpuudulikkus
@et
SCID
@cs
Severe Combined Immune Deficiency syndrome
@nl
Severe Combined Immunodeficiency
@de
déficit immunitaire combiné sévère
@fr
immunodeficienza combinata grave
@it
type
label
Comheaspa imdhíonachta dhian
@ga
Defisiensi imunitas kombinasi
@id
Inmunodeficiencia combinada grave
@es
Keimunokurangan bercampur teruk
@ms
Raske kombineeritud immuunpuudulikkus
@et
SCID
@cs
Severe Combined Immune Deficiency syndrome
@nl
Severe Combined Immunodeficiency
@de
déficit immunitaire combiné sévère
@fr
immunodeficienza combinata grave
@it
altLabel
Alimfoplasia timik
@id
Alimfositosis
@id
Boy in the Bubble Syndroom
@nl
IDCG
@es
Immunodeficienza grave combinata
@it
Immunodeficienze combinate gravi
@it
Immunodeficienze gravi combinate
@it
Inmunodeficiencia Combinada Severa
@es
Niño burbuja
@es
SCID
@en
prefLabel
Comheaspa imdhíonachta dhian
@ga
Defisiensi imunitas kombinasi
@id
Inmunodeficiencia combinada grave
@es
Keimunokurangan bercampur teruk
@ms
Raske kombineeritud immuunpuudulikkus
@et
SCID
@cs
Severe Combined Immune Deficiency syndrome
@nl
Severe Combined Immunodeficiency
@de
déficit immunitaire combiné sévère
@fr
immunodeficienza combinata grave
@it
P494
P672
P486
P6366
P646
P1417
science/severe-combined-immunodeficiency
P1550
P1748
P1995
P2892
P31
P3827
severe-combined-immunodeficiency
P3841
HP:0004430
P486
P494
P6366
2779468541
2910298221
P646
P672
C16.614.815
C18.452.284.800
C20.673.815