Severe Combined Immunodeficiency
Last Posted: Sep 24, 2020
- Review: Why screen for severe combined immunodeficiency disease?
Thomas C et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Sep
- The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.
Qureshi Sonia et al. The World Allergy Organization journal 2020 Jul 13(7) 100133
- Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand Janne et al. Frontiers in immunology 2020 111417
- Latin American consensus on the supportive management of patients with severe combined immunodeficiency.
Bustamante Ogando Juan Carlos et al. The Journal of allergy and clinical immunology 2019 144(4) 897-905
- [Severe combined immunodeficiency: The time for newborn screening has come].
Hoyos Bachiloglu Rodrigo et al. Revista chilena de pediatria 2019 Dec 90(6) 581-588
- Genetics of severe combined immunodeficiency.
Kumrah Rajni et al. Genes & diseases 2020 Mar 7(1) 52-61
- The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.
Quinn Jessica et al. Immunologic research 2020 Mar
- Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359
- David Vetter was ‘the boy in the bubble.’ His short life provided insights into how the rare disorder SCID works.
E Blakemore, Washington Post, January 2020
- [Advances in newborn screening and immune system reconstitution of severe combined immunodeficiency].
Huang Shumin et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2019 Jun 48(4) 351-357
- Where are you in your SCID journey?
Immune Deficiency Foundation, SCID Compass, 2019
- Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438
- Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
Schoenaker M H D et al. European journal of pediatrics 2019 Nov
- First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).
Argudo-Ramírez Ana et al. Frontiers in immunology 2019 102406
- Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda Andrea et al. Molecular genetics & genomic medicine 2019 Oct e1016
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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