DiGeorge Syndrome

"DiGeorge Syndrome" 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

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

Descriptor ID	D004062
MeSH Number(s)	C05.660.207.103.500 C14.240.400.021.500 C14.280.400.044.500 C15.604.451.249.500 C16.131.077.019.500 C16.131.240.400.021.500 C16.131.260.019.500 C16.131.482.249.500 C16.131.621.207.103.500 C16.320.180.019.500 C19.642.482.500.500
Concept/Terms	DiGeorge Syndrome DiGeorge Syndrome Syndrome, DiGeorge DiGeorge Sequence Familial Third and Fourth Pharyngeal Pouch Syndrome Autosomal Dominant Opitz G-Bbb Syndrome Autosomal Dominant Opitz G Bbb Syndrome Pharyngeal Pouch Syndrome Third and Fourth Pharyngeal Pouch Syndrome Thymic Aplasia Syndrome Catch22 DiGeorge Anomaly Hypoplasia of Thymus and Parathyroids Velocardiofacial Syndrome Velocardiofacial Syndrome Syndrome, Velocardiofacial Sedlackova Syndrome Syndrome, Sedlackova Shprintzen Syndrome Syndrome, Shprintzen 22q11.2DS VCF Syndrome Syndrome, VCF Velo-Cardio-Facial Syndrome Syndrome, Velo-Cardio-Facial Velo Cardio Facial Syndrome Deletion 22q11.2 Syndrome 22q11.2 Deletion Syndrome Deletion Syndrome, 22q11.2 Shprintzen VCF Syndrome Conotruncal Anomaly Face Syndrome Conotruncal Anomaly Face Syndrome Conotruncal Anomaly Face Syndrome (CTAF)

Below are MeSH descriptors whose meaning is more general than "DiGeorge Syndrome".

Diseases [C]
Musculoskeletal Diseases [C05]
Musculoskeletal Abnormalities [C05.660]
Craniofacial Abnormalities [C05.660.207]
22q11 Deletion Syndrome [C05.660.207.103]
DiGeorge Syndrome [C05.660.207.103.500]
Cardiovascular Diseases [C14]
Cardiovascular Abnormalities [C14.240]
Heart Defects, Congenital [C14.240.400]
22q11 Deletion Syndrome [C14.240.400.021]
DiGeorge Syndrome [C14.240.400.021.500]
Heart Diseases [C14.280]
Heart Defects, Congenital [C14.280.400]
22q11 Deletion Syndrome [C14.280.400.044]
DiGeorge Syndrome [C14.280.400.044.500]
Hemic and Lymphatic Diseases [C15]
Lymphatic Diseases [C15.604]
Lymphatic Abnormalities [C15.604.451]
22q11 Deletion Syndrome [C15.604.451.249]
DiGeorge Syndrome [C15.604.451.249.500]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
22q11 Deletion Syndrome [C16.131.077.019]
DiGeorge Syndrome [C16.131.077.019.500]
Cardiovascular Abnormalities [C16.131.240]
Heart Defects, Congenital [C16.131.240.400]
22q11 Deletion Syndrome [C16.131.240.400.021]
DiGeorge Syndrome [C16.131.240.400.021.500]
Chromosome Disorders [C16.131.260]
22q11 Deletion Syndrome [C16.131.260.019]
DiGeorge Syndrome [C16.131.260.019.500]
Lymphatic Abnormalities [C16.131.482]
22q11 Deletion Syndrome [C16.131.482.249]
DiGeorge Syndrome [C16.131.482.249.500]
Musculoskeletal Abnormalities [C16.131.621]
Craniofacial Abnormalities [C16.131.621.207]
22q11 Deletion Syndrome [C16.131.621.207.103]
DiGeorge Syndrome [C16.131.621.207.103.500]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
22q11 Deletion Syndrome [C16.320.180.019]
DiGeorge Syndrome [C16.320.180.019.500]
Endocrine System Diseases [C19]
Parathyroid Diseases [C19.642]
Hypoparathyroidism [C19.642.482]
22q11 Deletion Syndrome [C19.642.482.500]
DiGeorge Syndrome [C19.642.482.500.500]

Below are MeSH descriptors whose meaning is related to "DiGeorge Syndrome".

Below are MeSH descriptors whose meaning is more specific than "DiGeorge Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "DiGeorge Syndrome" by people in this website by year, and whether "DiGeorge Syndrome" was a major or minor topic of these publications.

Bar chart showing 46 publications over 21 distinct years, with a maximum of 4 publications in 2023

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

Year	Major Topic	Minor Topic	Total
2002	1	0	1
2003	3	0	3
2004	2	0	2
2005	2	1	3
2006	3	0	3
2007	2	0	2
2008	1	0	1
2009	1	0	1
2011	3	0	3
2012	2	0	2
2013	2	0	2
2015	2	0	2
2016	2	0	2
2017	3	0	3
2018	3	0	3
2019	2	0	2
2020	2	0	2
2021	2	0	2
2022	2	0	2
2023	4	0	4
2024	1	0	1

Below are the most recent publications written about "DiGeorge Syndrome" by people in Profiles.

Frusone V, Maurer K, Emanuel BS, McDonald-McGinn D, Sullivan KE. Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome. J Clin Immunol. 2024 Mar 15; 44(3):82.

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Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE. Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications. J Clin Immunol. 2023 05; 43(4):794-807.

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Boot E, ?skarsd?ttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 03; 25(3):100344.

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?skarsd?ttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 03; 25(3):100338.

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Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2023 02; 43(2):247-270.

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Crockett AM, Kebir H, Benallegue N, Adelman P, Gur RE, Sullivan K, Anderson SA, Alvarez JI. Immune status of the murine 22q11.2 deletion syndrome model. Eur J Immunol. 2023 01; 53(1):e2249840.

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Crowley TB, McGinn DM, Sullivan KE. 22q11.2 Deletion and Duplication Syndromes and COVID-19. J Clin Immunol. 2022 05; 42(4):746-748.

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Zhang Z, Shi L, Song L, Maurer K, Zhao X, Zackai EH, McGinn DE, Crowley TB, McGinn DMM, Sullivan KE. Chromatin Modifications in 22q11.2 Deletion Syndrome. J Clin Immunol. 2021 11; 41(8):1853-1864.

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Crowley TB, Campbell IM, Liebling EJ, Lambert MP, Levitt Katz LE, Heimall J, Bailey A, McGinn DE, McDonald McGinn DM, Sullivan KE. Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases. J Allergy Clin Immunol. 2022 01; 149(1):445-450.

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Deshpande DR, Demirdag YY, Marsh RA, Sullivan KE, Orange JS. Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study. J Clin Immunol. 2021 01; 41(1):29-37.

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