Literature DB >> 24402619

Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.

Leena Kainulainen1, Olli Lassila, Olli Ruuskanen.   

Abstract

PURPOSE: To study the changes in the immunological status in 2 children with cartilage hair hypoplasia (CHH).
METHODS: A 4-6 year immunological follow-up from infancy.
RESULTS: In infancy the children presented a combined T cell and B cell immunodeficiency which partly resolved in time. Mitogen-induced T cell proliferation values fluctuated but lymphopenia has remained constant. Both patients had no recent thymic emigrants (TREC). Both children have suffered from a prolonged viral infection. Hypogammaglobulinemia normalized during the first years of life but both children have a specific antibody deficiency (SAD).
CONCLUSIONS: The changes in the immunological status in CHH patients emphasize the importance of a regular follow-up. SAD should be searched for in CHH. The absence of TRECs supports combined immunodeficiency and possible need of hematopoietic stem cell transplantation.

Entities:  

Mesh:

Year:  2014        PMID: 24402619     DOI: 10.1007/s10875-013-9981-3

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN: 0271-9142            Impact factor:   8.317


  18 in total

1.  Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

Authors:  Miguel A de la Fuente; Mike Recher; Nicholas L Rider; Kevin A Strauss; D Holmes Morton; Margaret Adair; Francisco A Bonilla; Hans D Ochs; Erwin W Gelfand; Itai M Pessach; Jolan E Walter; Alejandra King; Silvia Giliani; Sung-Yun Pai; Luigi D Notarangelo
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Journal:  J Allergy Clin Immunol       Date:  2012-09       Impact factor: 10.793

3.  Hirschsprung disease associated with severe cartilage-hair hypoplasia.

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4.  Deficiency of humoral immunity in cartilage-hair hypoplasia.

Authors:  O Mäkitie; I Kaitila; E Savilahti
Journal:  J Pediatr       Date:  2000-10       Impact factor: 4.406

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7.  Hepatitis and human bocavirus primary infection in a child with T-cell deficiency.

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Authors:  William T Shearer; Howard M Rosenblatt; Rebecca S Gelman; Rebecca Oyomopito; Susan Plaeger; E Richard Stiehm; Diane W Wara; Steven D Douglas; Katherine Luzuriaga; Elizabeth J McFarland; Ram Yogev; Mobeen H Rathore; Wende Levy; Bobbie L Graham; Stephen A Spector
Journal:  J Allergy Clin Immunol       Date:  2003-11       Impact factor: 10.793

9.  Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.

Authors:  Nicholas L Rider; D Holmes Morton; Erik Puffenberger; Christine L Hendrickson; Donna L Robinson; Kevin A Strauss
Journal:  Clin Immunol       Date:  2009-01-16       Impact factor: 3.969

Review 10.  Norovirus gastroenteritis in immunocompromised patients.

Authors:  Karin Bok; Kim Y Green
Journal:  N Engl J Med       Date:  2012-11-29       Impact factor: 91.245

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  2 in total

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Journal:  Front Immunol       Date:  2018-05-24       Impact factor: 7.561

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Journal:  Front Immunol       Date:  2022-07-29       Impact factor: 8.786

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