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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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
MeSH Number(s)	C16.614.815 C18.452.284.800 C20.673.815
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

Below are MeSH descriptors whose meaning is more general than "Severe Combined Immunodeficiency".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Infant, Newborn, Diseases [C16.614]
Severe Combined Immunodeficiency [C16.614.815]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
DNA Repair-Deficiency Disorders [C18.452.284]
Severe Combined Immunodeficiency [C18.452.284.800]
Immune System Diseases [C20]
Immunologic Deficiency Syndromes [C20.673]
Severe Combined Immunodeficiency [C20.673.815]

Below are MeSH descriptors whose meaning is related to "Severe Combined Immunodeficiency".

Below are MeSH descriptors whose meaning is more specific than "Severe Combined Immunodeficiency".

Severe Combined Immunodeficiency
X-Linked Combined Immunodeficiency Diseases

publications

Timeline | Most Recent

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.

Bar chart showing 14 publications over 10 distinct years, with a maximum of 3 publications in 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2002	0	1	1
2013	1	0	1
2014	2	0	2
2015	1	0	1
2017	3	0	3
2018	1	0	1
2020	2	0	2
2021	1	0	1
2022	1	0	1
2023	1	0	1

Below are the most recent publications written about "Severe Combined Immunodeficiency" by people in Profiles.

Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD. Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium. Lancet. 2023 07 08; 402(10396):129-140.

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Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2023 02; 151(2):547-555.e5.

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Gabryszewski SJ, England RN, Sun D, Gentile TL, Hochgertel W, Jyonouchi S, Silverman M, Zaoutis T, Sullivan KE, Henrickson SE. Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID. J Clin Immunol. 2021 11; 41(8):1745-1747.

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Kuo CY, Garabedian E, Puck J, Cowan MJ, Sullivan KE, Buckley RH, Cunningham-Rundles C, Marsh R, Candotti F, Kohn DB. Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry. J Clin Immunol. 2020 11; 40(8):1124-1131.

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Sullivan KE. The scary world of variants of uncertain significance (VUS): A?hitchhiker's guide to interpretation. J Allergy Clin Immunol. 2021 02; 147(2):492-494.

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Haddad E, Logan BR, Griffith LM, Buckley RH, Parrott RE, Prockop SE, Small TN, Chaisson J, Dvorak CC, Murnane M, Kapoor N, Abdel-Azim H, Hanson IC, Martinez C, Bleesing JJH, Chandra S, Smith AR, Cavanaugh ME, Jyonouchi S, Sullivan KE, Burroughs L, Skoda-Smith S, Haight AE, Tumlin AG, Quigg TC, Taylor C, D?vila Salda?a BJ, Keller MD, Seroogy CM, Desantes KB, Petrovic A, Leiding JW, Shyr DC, Decaluwe H, Teira P, Gillio AP, Knutsen AP, Moore TB, Kletzel M, Craddock JA, Aquino V, Davis JH, Yu LC, Cuvelier GDE, Bednarski JJ, Goldman FD, Kang EM, Shereck E, Porteus MH, Connelly JA, Fleisher TA, Malech HL, Shearer WT, Szabolcs P, Thakar MS, Vander Lugt MT, Heimall J, Yin Z, Pulsipher MA, Pai SY, Kohn DB, Puck JM, Cowan MJ, O'Reilly RJ, Notarangelo LD. SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery. Blood. 2018 10 25; 132(17):1737-1749.

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Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Pulsipher MA, Parikh S, Martinez C, Kapoor N, O'Reilly R, Boyer M, Pai SY, Goldman F, Burroughs L, Chandra S, Kletzel M, Thakar M, Connelly J, Cuvelier G, Davila Saldana BJ, Shereck E, Knutsen A, Sullivan KE, DeSantes K, Gillio A, Haddad E, Petrovic A, Quigg T, Smith AR, Stenger E, Yin Z, Shearer WT, Fleisher T, Buckley RH, Dvorak CC. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood. 2017 12 21; 130(25):2718-2727.

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Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency. J Clin Immunol. 2017 Jul; 37(5):476-485.

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Jyonouchi S, Jongco AM, Puck J, Sullivan KE. Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia. J Clin Immunol. 2017 May; 37(4):363-374.

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Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2015 Nov 02; 125(11):4135-48.

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