Short-limb skeletal dysplasia with severe combined immunodeficiency

Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.

Journal of Medical Genetics ◽

10.1136/jmg.28.1.10 ◽

1991 ◽

Vol 28 (1) ◽

pp. 10-17 ◽

Cited By ~ 22

Author(s):

K D MacDermot ◽

R M Winter ◽

J S Wigglesworth ◽

S Strobel

Keyword(s):

Short Stature ◽

Skeletal Dysplasia ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Short Limb

Download Full-text

Malignant B-cell lymphoma in an infant with severe combined immunodeficiency with short-limbed skeletal dysplasia

Acta Paediatrica ◽

10.1111/j.1651-2227.1997.tb08588.x ◽

1997 ◽

Vol 86 (7) ◽

pp. 778-780 ◽

Cited By ~ 8

Author(s):

H Berg ◽

K Wage ◽

JD Burggraaf ◽

M Peters

Keyword(s):

B Cell ◽

Skeletal Dysplasia ◽

Cell Lymphoma ◽

Severe Combined Immunodeficiency ◽

B Cell Lymphoma ◽

Combined Immunodeficiency

Download Full-text

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

Journal of Bone and Mineral Research ◽

10.1002/jbmr.3173 ◽

2017 ◽

Vol 32 (9) ◽

pp. 1853-1859 ◽

Cited By ~ 16

Author(s):

Guillermo Pacheco-Cuéllar ◽

Julie Gauthier ◽

Valérie Désilets ◽

Christian Lachance ◽

Marlène Lemire-Girard ◽

...

Keyword(s):

Bone Marrow ◽

Skeletal Dysplasia ◽

Congenital Malformations ◽

Bone Marrow Failure ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Severe Phenotype

Download Full-text

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

Journal of Clinical Immunology ◽

10.1007/s10875-021-00985-w ◽

2021 ◽

Author(s):

Mathieu Fusaro ◽

Aline Vincent ◽

Martin Castelle ◽

Jérémie Rosain ◽

Benjamin Fournier ◽

...

Keyword(s):

Skeletal Dysplasia ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Homozygous Mutations

Download Full-text

600: Effect of Dietary Omega-6 Fatty Acid on Androgen-Independent Prostate Tumor Progression and Survival in Severe Combined Immunodeficiency Mice

The Journal of Urology ◽

10.1016/s0022-5347(18)37862-5 ◽

2004 ◽

Vol 171 (4S) ◽

pp. 159-160

Author(s):

Tung Ngo ◽

James Barnard ◽

Todd Anton ◽

Chris Tran ◽

David Elashoff ◽

...

Keyword(s):

Fatty Acid ◽

Tumor Progression ◽

Severe Combined Immunodeficiency ◽

Prostate Tumor ◽

Combined Immunodeficiency ◽

Omega 6 ◽

Androgen Independent

Download Full-text

HETERORESISTANCE FOR RIFAMPICIN IN AN INFANT WITH DISSEMINATED TB AND JAK 3 HOMOZYGOUS SEVERE COMBINED IMMUNODEFICIENCY

10.26226/morressier.59063dc1d462b80290b51dea ◽

2017 ◽

Author(s):

Vidya Krishna

Keyword(s):

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

Download Full-text

ADENOSINE DEAMINASE DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY WITH HYPERTROPHIC CARDIOMYOPATHY

10.26226/morressier.594a7d47d462b8028d893816 ◽

2017 ◽

Author(s):

Flinn Aisling

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Adenosine Deaminase ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

Download Full-text

Treatment of refractory norovirus infection with enteral inmmunoglobulin in patients with severe combined immunodeficiency

10.26226/morressier.5acdc65bd462b8029238d8a4 ◽

2018 ◽

Author(s):

ROSELLA LEE

Keyword(s):

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

Download Full-text

Faculty Opinions recommendation of Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1005837.70356 ◽

2002 ◽

Author(s):

Seppo Yla-Herttuala

Keyword(s):

Gene Therapy ◽

Ex Vivo ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Ex Vivo Gene Therapy

Download Full-text

Faculty Opinions recommendation of Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1142879.599967 ◽

2009 ◽

Author(s):

Antony Basten

Keyword(s):

Attention Deficit Hyperactivity Disorder ◽

Attention Deficit ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Hyperactivity Disorder

Download Full-text