Authors : Karaatmaca B; Hacettepe University School of Medicine, Department of Pediatrics, Division of Pediatric Immunology, Ankara, Turkey.; Department of Pediatric Allergy and Immunology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.

Subjects: Severe Combined Immunodeficiency*/Severe Combined Immunodeficiency*/Severe Combined Immunodeficiency*/genetics ; Lymphopenia* ; Primary Immunodeficiency Diseases*

Source: Clinical and experimental immunology [Clin Exp Immunol] 2024 Feb 07; Vol. 215 (2), pp. 160-176.Publisher: Oxford University Press Country of Publication: England NLM ID: 0057202 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Zebrafish: A Relevant Genetic Model for Human Primary Immunodeficiency (PID) Disorders?

Authors : Basheer F; School of Medicine, Deakin University, Geelong, VIC 3216, Australia.; Institute for Mental and Physical Health and Clinical Translation (IMPACT), Deakin University, Geelong, VIC 3216, Australia.

Subjects: Immunologic Deficiency Syndromes*/Immunologic Deficiency Syndromes*/Immunologic Deficiency Syndromes*/genetics ; Immunologic Deficiency Syndromes*/Immunologic Deficiency Syndromes*/Immunologic Deficiency Syndromes*/therapy ; Primary Immunodeficiency Diseases*/Primary Immunodeficiency Diseases*/Primary Immunodeficiency Diseases*/genetics

Source: International journal of molecular sciences [Int J Mol Sci] 2023 Mar 30; Vol. 24 (7). Date of Electronic Publication: 2023 Mar 30.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Inborn Errors of Immunity in Algerian Children and Adults: A Single-Center Experience Over a Period of 13 Years (2008-2021).

Authors : Belaid B; Department of Medical Immunology, Beni Messous University Hospital Center, University of Algiers 1, Algiers, Algeria.; Lamara Mahammed L

Subjects: Immunologic Deficiency Syndromes*/Immunologic Deficiency Syndromes*/Immunologic Deficiency Syndromes*/genetics ; Primary Immunodeficiency Diseases*/Primary Immunodeficiency Diseases*/Primary Immunodeficiency Diseases*/genetics ; Severe Combined Immunodeficiency*

Source: Frontiers in immunology [Front Immunol] 2022 Apr 21; Vol. 13, pp. 900091. Date of Electronic Publication: 2022 Apr 21 (Print Publication: 2022).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet

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Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.

Authors : Al Farsi T; Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman.; Ahmed K

Subjects: Primary Immunodeficiency Diseases* ; Severe Combined Immunodeficiency*; Delayed Diagnosis

Source: Frontiers in immunology [Front Immunol] 2022 Apr 06; Vol. 13, pp. 849694. Date of Electronic Publication: 2022 Apr 06 (Print Publication: 2022).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Investigating the Variation of TREC/KREC in Combined Immunodeficiencies.

Authors : Shakerian L; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran. .; Nourizadeh M

Subjects: Genetic Association Studies* ; Genetic Predisposition to Disease* ; Genetic Variation*

Source: Iranian journal of allergy, asthma, and immunology [Iran J Allergy Asthma Immunol] 2021 Aug 07; Vol. 20 (4), pp. 402-412. Date of Electronic Publication: 2021 Aug 07.Publisher: Tehran University of Medical Sciences Country of Publication: Iran NLM ID: 101146178 Publication Model: Electronic Cited Medium: Internet

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Academic Journal

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

Authors : Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland.; Independent Public Clinical Hospital nr 1 PUM, Szczecin, Poland.

Subjects: Immunologic Tests* ; Neonatal Screening* ; Real-Time Polymerase Chain Reaction*

Source: Frontiers in immunology [Front Immunol] 2020 Oct 16; Vol. 11, pp. 1948. Date of Electronic Publication: 2020 Oct 16 (Print Publication: 2020).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet

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Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis.

Authors : Korsunskiy I; Speransky Children's Hospital, Moscow, Russia.; Department of Paediatrics and Paediatric Infectious Diseases, Institute of Child's Health, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.

Subjects: Gene Rearrangement, B-Lymphocyte* ; Gene Rearrangement, T-Lymphocyte*; DNA, Circular/DNA, Circular/DNA, Circular/*blood

Source: Frontiers in immunology [Front Immunol] 2020 Mar 03; Vol. 11, pp. 320. Date of Electronic Publication: 2020 Mar 03 (Print Publication: 2020).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Universal donor strategy for primary immunodeficiency.

Authors : Gennery AR

Subjects: Hematopoietic Stem Cell Transplantation* ; Primary Immunodeficiency Diseases* ; Severe Combined Immunodeficiency*

Source: Blood [Blood] 2019 Nov 14; Vol. 134 (20), pp. 1688-1689.Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020

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Report

Abnormal Newborn Screen in a WHIM Syndrome Infant.

Authors : Evans MO 2nd; Walter Reed National Military Medical Center, 13101 Conover Dr., Silver Spring, Bethesda, MD, 20902, USA. .; McDermott DH

Subjects: Neonatal Screening*; Primary Immunodeficiency Diseases/Primary Immunodeficiency Diseases/Primary Immunodeficiency Diseases/*diagnosis ; Severe Combined Immunodeficiency/Severe Combined Immunodeficiency/Severe Combined Immunodeficiency/*diagnosis WHIM syndrome

Source: Journal of clinical immunology [J Clin Immunol] 2019 Nov; Vol. 39 (8), pp. 839-841. Date of Electronic Publication: 2019 Sep 06.Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.

Authors : Kuehn HS; Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Building 10, Rm 2C306, 10 Center Drive, MSC1508, Bethesda, MD, USA.; Gloude NJ

Subjects: Haploinsufficiency/Haploinsufficiency/Haploinsufficiency/*genetics ; Ikaros Transcription Factor/Ikaros Transcription Factor/Ikaros Transcription Factor/*genetics ; Mutation/Mutation/Mutation/*genetics

Source: Journal of clinical immunology [J Clin Immunol] 2021 Aug; Vol. 41 (6), pp. 1241-1249. Date of Electronic Publication: 2021 Apr 14.Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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