Omenn Syndrome
What's New
Last Posted: Mar 09, 2023
- Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Carsten Speckmann et al. Journal of clinical immunology 2023 1-14 - Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes Saul Oswaldo, et al. Journal of clinical immunology 2021 0 (6) 1291-1302 - Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
Ozturk Elif, et al. Journal of clinical immunology 2022 0 (5) 1036-1050 - Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Schuetz C, et al. Blood 2022 0 - Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.
Carneiro-Sampaio Magda et al. Frontiers in pediatrics 2022 10891343 - SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros Lucila Akune et al. Journal of clinical immunology 2022 - Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.
- Omenn syndrome
From NCATS Genetic and Rare Diseases Information Center - GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
Haq Iram J, et al. Clinical immunology (Orlando, Fla.) 2007 8 (2) 165-9
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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