Nezelof syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
'''Nezelof syndrome''' (a form of '''thymic dysplasia''') is an [[autosomal]] [[recessive]]<ref>{{OMIM|242700}}</ref> [[congenital]] [[immunodeficiency]] condition due to underdevelopment of the [[thymus]]. | '''Nezelof syndrome''' (a form of '''thymic dysplasia''') is an [[autosomal]] [[recessive]]<ref>{{OMIM|242700}}</ref> [[congenital]] [[immunodeficiency]] condition due to underdevelopment of the [[thymus]]. | ||
It was characterized in 1964.<ref name="pmid14195287">{{cite journal |pmid=14195287 |year=1964 |month=October |author=Nezelof C, Jammet ML, Lortholary P, Labrune B, Lamy M |title=Hereditary Thymic Hypoplasia: Its Place And Responsibility In A Case Of Lymphocytic, Normoplasmocytic And Normoglobulinemic Aplasia In An Infant |volume=21 |issue= |pages=897–920 |issn=0003-9764 |journal=Archives francaises de pediatrie |url=http://www.nlm.nih.gov/medlineplus/autoimmunediseases.html |format=Free full text}}</ref> | It was characterized in 1964.<ref name="pmid14195287">{{cite journal |pmid=14195287 |year=1964 |month=October |author=Nezelof C, Jammet ML, Lortholary P, Labrune B, Lamy M |title=Hereditary Thymic Hypoplasia: Its Place And Responsibility In A Case Of Lymphocytic, Normoplasmocytic And Normoglobulinemic Aplasia In An Infant |volume=21 |issue= |pages=897–920 |issn=0003-9764 |journal=Archives francaises de pediatrie |url=http://www.nlm.nih.gov/medlineplus/autoimmunediseases.html |format=Free full text}}</ref> It was considered a form of [[combined immunodeficiency]] in [[ICD-10]] but a deficiency of [[cell-mediated immunity]] in [[ICD-9]]. | ||
It was considered a form of [[combined immunodeficiency]] in [[ICD-10]] but a deficiency of [[cell-mediated immunity]] in [[ICD-9]]. | |||
==References== | ==References== | ||
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{{Immune disorders}} | {{Immune disorders}} | ||
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[[Category:Rheumatology]] | [[Category:Rheumatology]] | ||
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Revision as of 19:40, 2 November 2012
| Nezelof syndrome | |
| ICD-10 | D81.4 |
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| ICD-9 | 279.13 |
| OMIM | 242700 |
| DiseasesDB | 29571 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Nezelof syndrome (a form of thymic dysplasia) is an autosomal recessive[1] congenital immunodeficiency condition due to underdevelopment of the thymus.
It was characterized in 1964.[2] It was considered a form of combined immunodeficiency in ICD-10 but a deficiency of cell-mediated immunity in ICD-9.
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 242700
- ↑ Nezelof C, Jammet ML, Lortholary P, Labrune B, Lamy M (1964). "Hereditary Thymic Hypoplasia: Its Place And Responsibility In A Case Of Lymphocytic, Normoplasmocytic And Normoglobulinemic Aplasia In An Infant" (Free full text). Archives francaises de pediatrie. 21: 897–920. ISSN 0003-9764. PMID 14195287. Unknown parameter
|month=ignored (help)