Abbreviations BRWS: Baraitser-Winter syndrome CGD: Chronic granulomatous disease CHS: Chediak-Higashi syndrome CMT: Charcot-Marie-Tooth disease CTSC: Cathepsin C fMLP: Formyl-methionyl-leucyl-phenylalanine GCSF: Granulocyte colony-stimulating factor ICAM: Intercellular adhesion molecule LAD: Leukocyte adhesion deficiency LSP1: Lymphocyte-specific protein 1 MTOC: Microtubule organizing center NAD: Neutrophil actin dysfunction NE: Neutrophil elastase PLS: Papillon-Lefevre syndrome SCN: Severe congenital neutropenia SDS: Shwachman-Diamond syndrome WAVE: WASp-family verprolin-homologous protein WAS: Wiskott-Aldrich syndrome
WASp: WAS protein WHIM: Warts, hypogammaglobulinemia, infections, myelokathexis XLN: X-linked neutropenia.
In total 16 patients with Wiskott-Aldrich syndrome
and 10 with metachromatic leukodystrophy were treated.
Surgical resection of sequential thoracic aortic aneurysms in Wiskott-Aldrich syndrome
. Interact Cardiovasc Thorac Surg 2004; 3: 346-8.
Bellen's research team have discovered that the Arp2/3 complex and its activator WASp (Wiskott-Aldrich syndrome
protein) function in these daughter cells to transport Delta vesicles to the apical region of the daughter cells.
(17,25) In patients with Wiskott-Aldrich syndrome
, the platelets may be small.
Orchard Therapeutics announced that the first patient with Wiskott-Aldrich Syndrome
, or WAS, has been dosed in a open label study designed to evaluate engraftment of the cryopreserved formulation of OTL-103, its ex vivo autologous hematopoietic stem cell, or HSC, gene therapy.
HIV to treat Wiskott-Aldrich syndrome
Thirty years ago HIV was a terrifying death sentence, now it can give life.
Patients with atopic dermatitis and Wiskott-Aldrich syndrome
may demonstrate eczematous dermatitis and staphylococcal infections.
For example, Wiskott-Aldrich syndrome
has been reversed using gene therapy at Boston's Children's Hospital.
Congenital immune deficiencies including complement deficiencies, phagocyte dysfunctions, cell receptor and signal transmission disorders, X-linked agammaglobulinemia which leads to antibody production failure, variable immune deficiencies, severe combined immune deficiency syndrome, complete Di George syndrome, Wiskott-Aldrich syndrome
, adaptive immune deficiencies including ataxia-telangiectasia are very important causes of infections, morbidities and mortality.
The two-year-old was diagnosed with Wiskott-Aldrich Syndrome
when he was just a few months old.
The charity are the legacy of a little boy called Anthony Nolan who had a rare condition called Wiskott-Aldrich syndrome