(observational) study number 00-I-0159: Natural History, Management, and Genetics of the hyperimmunoglobulin E Recurrent Infection syndrome (HIES) - NCT00006150...
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hypereosinophilic syndrome. Congenital disorders Hyperimmunoglobulin E syndrome, an immune disorder characterized by high levels of serum IgE Omenn syndrome Familial...
50 KB (5,523 words) - 06:20, 11 November 2024
DOCK8 deficiency (redirect from DOCK8 immunodeficiency syndrome)
immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels...
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Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyperimmunoglobulin D syndrome Hyperimmunoglobulin E syndrome...
42 KB (4,068 words) - 16:56, 1 November 2024
Alternatively, cold abscesses are typical in persons with hyperimmunoglobulin E syndrome, even when infected with an organism like Staphylococcus aureus...
3 KB (275 words) - 03:47, 2 August 2024
Pentasomy X (redirect from 49 xxxxx syndrome)
case report, pentasomy X occurred alongside the similarly rare hyperimmunoglobulin E syndrome. Other possibly coincidental associations have included cerebral...
29 KB (3,393 words) - 18:36, 31 October 2024
combined immunodeficiency (SCID) DiGeorge syndrome Hyperimmunoglobulin E syndrome (also known as Job's Syndrome) Common variable immunodeficiency (CVID):...
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nodular histiocytosis Mastocytosis Hyperimmunoglobulin E syndrome, also known as Job's syndrome Facies Leontiasis ossea "eMedicine - Leprosy : Article by...
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been associated with hyperimmunoglobulin E syndrome (HIES), a primary immunodeficiency characterized by elevated serum immunoglobulin E. TYK2 appears to play...
25 KB (2,850 words) - 23:00, 12 November 2023
Mevalonate kinase deficiency (redirect from Hyperimmunoglobulin D syndrome)
have been described worldwide. MKD was originally described as hyperimmunoglobulin D syndrome (HIDS), but HIDS is now recognized as a mild manifestation of...
17 KB (1,960 words) - 22:12, 13 November 2024
Rett-like syndromes. Pitt-Hopkins syndrome is clinically similar to Angelman syndrome, Rett-syndrome, Mowat Wilson syndrome, and ATR-X syndrome. As more...
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diminished ability to fight bacterial infection. Examples include: Hyperimmunoglobulin E syndrome Chédiak–Higashi syndrome Chronic granulomatous disease v t e...
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with a variant of combined immunodeficiency. This variant of Hyperimmunoglobulin E syndrome (HIES) was first described in 2004 and this clinical entity...
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Campomelic dysplasia (redirect from Camptomelic syndrome)
Available from: https://www.ncbi.nlm.nih.gov/books/NBK1760/ S. Corbani; E. Chouery; B. Eid; et al. (2010). "Mild Campomelic Dysplasia: Report on a Case...
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tumor necrosis factor receptor associated periodic syndrome (TRAPS), hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD), and familial...
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hypereosinophilic syndrome; d) absence of signs or symptoms of other hereditary eosinophilias (e.g. hyperimmunoglobulin E syndrome, Omenn syndrome), Wiskott–Aldrich...
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infections. Loss-of-function mutations in the STAT3 gene result in hyperimmunoglobulin E syndrome, associated with recurrent infections as well as disordered...
28 KB (3,340 words) - 22:59, 25 September 2024
Hyper-IgD syndrome Hyperimidodipeptiduria Hyperimmunoglobinemia D with recurrent fever Hyperimmunoglobulin E - recurrent infection syndrome Hyperimmunoglobulinemia...
21 KB (1,717 words) - 04:04, 12 March 2024
loss-of-function mutations are responsible for hyperimmunoglobulin E syndrome, also called Job's syndrome, which is characterized by recurrent infections...
14 KB (1,528 words) - 23:00, 25 September 2024
impairments. Often patients present with similar manifestations to Hyperimmunoglobulin E syndrome (HIES), including severe atopic dermatitis, chronic sinusitis...
10 KB (999 words) - 07:29, 24 August 2023
Immunodeficiency with hyperimmunoglobulin M is a rare disorder characterized by recurrent infections, low or absent IgG, IgE, and IgA levels, and normal...
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Congenital cytomegalovirus infection (redirect from Fetal cytomegalovirus syndrome)
Salviato, E.; Citton, V.; Magno, F.M.; Morando, C. (2012). "Early primary cytomegalovirus infection in pregnancy: maternal hyperimmunoglobulin therapy improves...
24 KB (2,914 words) - 19:56, 8 November 2023