Wiskott Aldrich Syndrome
What's New
Last Posted: Aug 04, 2022
- Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan Koon-Wing et al. Frontiers in immunology 2022 13883446 - Hematopoietic Stem Cell Therapy for Wiskott-Aldrich Syndrome: Improved Outcome and Quality of Life.
Mallhi Kanwaldeep K et al. Journal of blood medicine 2021 12435-447 - 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 - Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar Abhishek A et al. Mayo Clinic proceedings 2020 Jun - How I manage patients with Wiskott Aldrich syndrome.
Rivers Elizabeth et al. British journal of haematology 2019 185(4) 647-655 - [Genetic screening in early diagnosis of neonatal WAS gene-related disorders].
Liu X et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Jun 57(6) 429-433 - Gene therapy for primary immunodeficiency.
Booth Claire et al. Human molecular genetics 2019 Jul - Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
Fernandes Juliana Folloni et al. Journal of clinical immunology 2018 Nov - CLINGEN Actionability Report for WAS-related disorders-WAS
ClinGen Actionability Working Group - Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Nourizadeh Maryam et al. Scandinavian journal of immunology 2018 Jun e12699
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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
- Page last updated:May 30, 2024
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