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Literature DB >> 28284971

Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.

Svetlana Kostjukovits¹, Paula Klemetti², Helena Valta², Timi Martelius³, Luigi D Notarangelo⁴, Mikko Seppänen³, Mervi Taskinen², Outi Mäkitie⁵.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：
Biomarkers

Year: 2017 PMID： 28284971 PMCID： PMC5547008 DOI： 10.1016/j.jaci.2017.02.016

Source DB: PubMed Journal: J Allergy Clin Immunol ISSN： 0091-6749 Impact factor: 10.793

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9 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
Journal: J Allergy Clin Immunol Date: 2011-05-13 Impact factor: 10.793

2. Bone marrow transplantation for cartilage-hair-hypoplasia.

Authors: R Guggenheim; R Somech; E Grunebaum; A Atkinson; C M Roifman
Journal: Bone Marrow Transplant Date: 2006-10-16 Impact factor: 5.483

3. B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency.

Authors: Gertjan J Driessen; Menno C van Zelm; P Martin van Hagen; Nico G Hartwig; Margreet Trip; Adilia Warris; Esther de Vries; Barbara H Barendregt; Ingrid Pico; Wim Hop; Jacques J M van Dongen; Mirjam van der Burg
Journal: Blood Date: 2011-10-31 Impact factor: 22.113

4. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

Authors: Victoria Bordon; Andrew R Gennery; Mary A Slatter; Els Vandecruys; Genevieve Laureys; Paul Veys; Waseem Qasim; Qasim Waseem; Wilhelm Friedrich; Nico M Wulfraat; Franziska Scherer; Andrew J Cant; Alain Fischer; Marina Cavazzana-Calvo; Marina Cavazanna-Calvo; Robbert G M Bredius; Luigi D Notarangelo; Evelina Mazzolari; Benedicte Neven; Tayfun Güngör; Güngör Tayfun
Journal: Blood Date: 2010-04-07 Impact factor: 22.113

5. Increased mortality in cartilage-hair hypoplasia.

Authors: O Mäkitie; E Pukkala; I Kaitila
Journal: Arch Dis Child Date: 2001-01 Impact factor: 3.791

6. An infant with both autoimmune neutropenia and idiopathic thrombocytopenia with IgG2/IgA deficiency.

Authors: K Sugita; Y Owada; T Ozawa; H Sakakibara; M Eguchi; T Furukawa; K Saitoh
Journal: Int J Hematol Date: 1993-01 Impact factor: 2.490

7. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Authors: Christian T Thiel; Geert Mortier; Ilkka Kaitila; André Reis; Anita Rauch
Journal: Am J Hum Genet Date: 2007-08-06 Impact factor: 11.025

8. 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

9. Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

Authors: Winnie Ip; H Bobby Gaspar; Robert Kleta; Estelle Chanudet; Chiara Bacchelli; Alison Pitts; Zohreh Nademi; E Graham Davies; Mary A Slatter; Persis Amrolia; Kanchan Rao; Paul Veys; Andrew R Gennery; Waseem Qasim
Journal: J Clin Immunol Date: 2015-02-08 Impact factor: 8.317

9 in total

15 in total

Review 1. Advances and highlights in primary immunodeficiencies in 2017.

Authors: Javier Chinen; Morton J Cowan
Journal: J Allergy Clin Immunol Date: 2018-08-29 Impact factor: 10.793

Review 2. Ribosomopathies: Old Concepts, New Controversies.

Authors: Katherine I Farley-Barnes; Lisa M Ogawa; Susan J Baserga
Journal: Trends Genet Date: 2019-07-31 Impact factor: 11.639

3. Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

Authors: Ethan M Scott; Sharat Chandra; Jinzhu Li; Eric D Robinette; Miraides F Brown; Olivia K Wenger
Journal: J Clin Immunol Date: 2020-01-06 Impact factor: 8.317

4. Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.

Authors: Elina Holopainen; Svetlana Vakkilainen; Outi Mäkitie
Journal: Orphanet J Rare Dis Date: 2018-11-16 Impact factor: 4.123

5. A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.

Authors: Svetlana Vakkilainen; Riikka Mäkitie; Paula Klemetti; Helena Valta; Mervi Taskinen; Eystein Sverre Husebye; Outi Mäkitie
Journal: Front Immunol Date: 2018-10-25 Impact factor: 7.561

Review 6. Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework.

Authors: Oskar A Haas
Journal: Front Immunol Date: 2019-02-12 Impact factor: 7.561