 Severe Combined Immunodeficiency
"Severe Combined Immunodeficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
| Descriptor ID |
D016511
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| MeSH Number(s) |
C16.614.815 C18.452.284.800 C20.673.815
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| Concept/Terms |
Severe Combined Immunodeficiency- Severe Combined Immunodeficiency
- Combined Immunodeficiencies, Severe
- Combined Immunodeficiency, Severe
- Immunodeficiencies, Severe Combined
- Severe Combined Immunodeficiencies
- Immunodeficiency, Severe Combined
- Severe Combined Immune Deficiency
- Severe Combined Immunodeficiency Syndrome
- Severe Combined Immunologic Deficiency
- Immunodeficiency Syndrome, Severe Combined
- Immunologic Deficiency, Severe Combined
Bare Lymphocyte Syndrome- Bare Lymphocyte Syndrome
- Bare Lymphocyte Syndromes
- Lymphocyte Syndrome, Bare
- Lymphocyte Syndromes, Bare
- Syndrome, Bare Lymphocyte
- Syndromes, Bare Lymphocyte
Omenn Syndrome- Omenn Syndrome
- Syndrome, Omenn
- Reticuloendotheliosis, Familial
- Familial Reticuloendothelioses
- Familial Reticuloendotheliosis
- Reticuloendothelioses, Familial
- Omenn's Syndrome
- Omenns Syndrome
- Syndrome, Omenn's
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Below are MeSH descriptors whose meaning is more general than "Severe Combined Immunodeficiency".
Below are MeSH descriptors whose meaning is more specific than "Severe Combined Immunodeficiency".
This graph shows the total number of publications written about "Severe Combined Immunodeficiency" by people in this website by year, and whether "Severe Combined Immunodeficiency" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1993 | 1 | 1 | 2 | | 1994 | 1 | 1 | 2 | | 1995 | 2 | 0 | 2 | | 1997 | 1 | 3 | 4 | | 1998 | 1 | 0 | 1 | | 1999 | 1 | 0 | 1 | | 2000 | 4 | 1 | 5 | | 2001 | 1 | 0 | 1 | | 2002 | 1 | 0 | 1 | | 2003 | 1 | 0 | 1 | | 2004 | 2 | 0 | 2 | | 2005 | 4 | 0 | 4 | | 2006 | 5 | 0 | 5 | | 2007 | 2 | 0 | 2 | | 2008 | 5 | 0 | 5 | | 2009 | 5 | 1 | 6 | | 2010 | 2 | 1 | 3 | | 2011 | 4 | 1 | 5 | | 2012 | 6 | 0 | 6 | | 2013 | 5 | 0 | 5 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 2 | 0 | 2 | | 2017 | 2 | 1 | 3 | | 2018 | 3 | 0 | 3 | | 2019 | 4 | 0 | 4 | | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Severe Combined Immunodeficiency" by people in Profiles.
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Murguia-Favela L, Min W, Loves R, Leon-Ponte M, Grunebaum E. Comparison of elapegademase and pegademase in ADA-deficient patients and mice. Clin Exp Immunol. 2020 05; 200(2):176-184.
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Mandola AB, Reid B, Sirror R, Brager R, Dent P, Chakroborty P, Bulman DE, Roifman CM. Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience. Front Immunol. 2019; 10:2940.
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Grunebaum E, Reid B, Naqvi A, Hershfield MS, Kim VH, Muller MP, Hicks LK, Lee E, Betschel S, Roifman CM. Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy. Clin Immunol. 2020 02; 211:108321.
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Saunders JR, Lehman A, Turvey SE, Pan J, Rajcan-Separovic E, Muise AM, Bush JW. Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency. J Clin Immunol. 2019 08; 39(6):616-619.
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Xu X, Negandhi J, Min W, Tsui M, Post M, Harrison RV, Grunebaum E. Early Enzyme Replacement Therapy Improves Hearing and Immune Defects in Adenosine Deaminase Deficient-Mice. Front Immunol. 2019; 10:416.
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Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. Proc Natl Acad Sci U S A. 2019 01 15; 116(3):970-975.
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Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019 03; 143(3):852-863.
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Kim VH, Pham-Huy A, Grunebaum E. Neutropenia among patients with adenosine deaminase deficiency. J Allergy Clin Immunol. 2019 01; 143(1):403-405.
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Biggs CM, Haddad E, Issekutz TB, Roifman CM, Turvey SE. Newborn screening for severe combined immunodeficiency: a primer for clinicians. CMAJ. 2017 12 18; 189(50):E1551-E1557.
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Scott O, Kim VH, Reid B, Pham-Huy A, Atkinson AR, Aiuti A, Grunebaum E. Long-Term Outcome of Adenosine Deaminase-Deficient Patients-a Single-Center Experience. J Clin Immunol. 2017 Aug; 37(6):582-591.
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