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Wiskott-Aldrich syndrome

This is part of Rare diseases.

Diagnosis: Wiskott-Aldrich syndrome

Synonyms: --

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Publication date: 2013-03-12
Version: 4.0 

The disease

Wiskott-Aldrich syndrome (WAS) is a hereditary immune deficiency disorder (a primary immunodeficiency), which was first described by German physician Alfred Wiskott in 1937, and later by American paediatrician Robert Anderson Aldrich in 1954.

As a rule the syndrome only affects boys, and in its classic form it is characterized by a deficiency in blood platelets (thrombocytes), combined immune deficiency, and allergies.

There are also other forms of the disorder with fewer and less pronounced symptoms. Although the aetiology of these disorders is the same as in the classic form of the syndrome, their only or dominant characteristic is thrombocyte deficiency.

Occurrence

Approximately ten individuals in Sweden have been diagnosed with Wiskott-Aldrich syndrome. Approximately 1 boy per 300,000 is born with the condition, meaning that in Sweden one boy with Wiskott-Aldrich syndrome is born about every three years.

Cause

The cause of the syndrome is a mutation in a gene known as WASP, located on the short arm of the X chromosome (Xp11.4-p11.21). The gene was identified in 1994, and it codes for (regulates the production of) a protein named WASp. This protein delivers information from the cell surface to the cytoskeleton. The cytoskeleton is a kind of protein network that acts as a scaffold inside the cell, helping to maintain cell shape, and also enabling cell locomotion and mobility within the cell. WASp only exists in the cells of the blood system.

Mutations of the WASP gene can either cause complete lack of WASp or defective protein. The symptoms therefore vary greatly among individuals. Moreover, a full understanding of how specific mutations lead to the various symptoms is complicated by the fact that a few boys with a mutation that alters WASp function also have one or several other mutations which, in part, repair the gene.

If there is no WASp, many blood cells’ functions are disturbed. For example, cell formation and division are affected, and the cells’ ability to change shape in various immune defence reactions is impaired. The blood platelets also break down more rapidly than normal.

In the classic form of Wiskott-Aldrich syndrome no WASp is produced. In milder, less typical forms of the syndrome, however, there may be small amounts of defective protein. Another mutation that has the effect of constantly activating the WASP gene has also been described. A continuously active gene causes a completely different range of symptoms than if the protein is missing or defective. Instead of having a thrombocyte deficiency, children with a constantly active gene are deficient in the white blood cells known as neutrophil granulocytes.

A very rare form of Wiskott-Aldrich syndrome is caused by a mutation in the gene WIPF1, located on chromosome 2 (2q31.2). This gene codes for the protein WIP (WASp-interacting protein), which stabilises WASp. WIP deficiency causes breakdown of WASp, leading to very low levels or complete absence of this protein. The symptoms caused by a WIPF1 mutation are therefore similar to those associated with severe forms of Wiskott-Aldrich syndrome.

Heredity

Wiskott-Aldrich syndrome is caused by a mutated gene located on the X chromosome, which is one of the chromosomes determining sex. Men have one X chromosome and one Y chromosome, while women have two X chromosomes. Inherited X-linked recessive disorders usually occur only in men, being passed down via a healthy female carrier who has one normal and one mutated gene. Sons of female carriers of a mutated gene run a 50 per cent risk of inheriting the disease and daughters run the same risk of being healthy carriers of a mutated gene. A man with an inherited X-linked recessive disease can not pass it on to his sons, but all his daughters will be carriers of the mutated gene.

Figure: X-linked recessive inheritance via a male carrier with the disease

Figure: X-linked recessive inheritance  via a healthy female carrier

The syndrome can also be caused by a new mutation. This means that the genetic mutation occurs in an individual for the first time and is not inherited from either parent. Consequently, parents with a child with a new mutation generally do not have an increased risk of having another child with the disorder. However, the new genetic mutation will be hereditary and an adult with this mutation risks passing on the mutated gene to his/her children. In Wiskott-Aldrich syndrome the situation is special as the new mutation has often occurred in the mother of an affected boy. As women have two X chromosomes the mother will not be affected, but all her sons have a 50 per cent risk of having the disorder.

The very rare form associated with a WIPF1 mutation has an autosomal recessive pattern of inheritance, meaning that both parents are healthy carriers of a mutated gene and that girls may also be affected. In each pregnancy, the risk that the child will be affected is 25 per cent.

Symptoms

All individuals with a mutation in the WASP gene, which causes the gene to produce no or defective protein, have bleeding problems. Individuals with Wiskott-Aldrich syndrome have an abnormally low blood platelet (thrombocyte) count, a condition known as thrombocytopenia, and the platelet function is also disturbed. This condition manifests as an increased risk of bleeding and poor blood coagulation. The first bleeding episodes appear as early as in infancy, and may occur in many different places, including the nose, gums, intestines, and skin. In the skin, the bleeding is visible as small red spots (petechias) or large bruises. However, the most common type of bleeding in infancy is intestinal bleeding. Severe bleeding from scrapes or cuts is another symptom of inadequate coagulation. When there is internal bleeding, for instance in the brain, liver, or spleen, the blood loss and other symptoms may be serious or even life-threatening.

Only boys who have no production of WASp protein are affected by the classic form of Wiskott-Aldrich syndrome, which is characterised by many and severe infections. In Wiskott-Aldrich syndrome, the immune deficiency affects both the B and T lymphocytes, and is therefore classified as a combined immune deficiency. Lymphocytes are a type of white blood cells that play a key role in our ability to fight off infections.

B lymphocytes protect us against bacterial infections, and their main function is to produce antibodies (gamma globulin). T lymphocytes primarily protect us against viral, fungus, and parasitic infections. They also regulate and coordinate our immune defence.

An individual with Wiskott-Aldrich syndrome will usually have normal numbers of T lymphocytes, but as they do not function properly, he will, for example, be more susceptible to fungal and viral infections. The number of B lymphocytes is also usually normal, but they lack the ability to produce antibodies against the polysaccharide capsules that surround certain bacteria. This leads to infections caused by bacteria such as Hemophilus influenzae and Pneumococci, which cause ear infections, pneumonia, meningitis, and septicaemia (blood poisoning). The infections begin around the age of six months, when the newborn has exhausted the antibodies received transplacentally from the mother. The immune function then tends to decline over the years, with infections becoming more frequent and more serious.

Various allergies appear early in children with Wiskott-Aldrich syndrome. Eczema is very common. In infants the symptoms resemble nappy rash, but the condition is often considerably more serious. In somewhat older children, eczema often appears around the elbows, wrists, throat, and the backs of the knees. There is itching and often a great deal of irritation, and complications in the form of bleeding and infections may arise. Other common allergies include asthma, food allergies, and hay fever.

In almost half of the older boys and men with Wiskott-Aldrich syndrome autoimmune reactions are common. They arise when the immune defence system manufactures antibodies directed against the body itself. The cause of these reactions is still unidentified. Examples of autoimmune reactions in Wiskott-Aldrich syndrome are episodes of high fever unrelated to an infection, and new rashes in conjunction with swollen, painful joints. Sometimes an autoimmune reaction affecting the thrombocyte function exacerbates the thrombocyte deficiency.

There is a raised risk of malignancies in Wiskott-Aldrich syndrome, and it increases with age. These diseases often attack the immune system in the form of leukaemia or cancer of the lymph glands (lymphoma).

Diagnosis

The possibility of Wiskott-Aldrich syndrome should be considered in all forms of thrombocytopenia in men and boys. Sometimes individuals with milder forms of Wiskott-Aldrich syndrome are not diagnosed until symptoms other than bleeding problems, such as autoimmune reactions, have occurred.

When there is a suspicion of Wiskott-Aldrich syndrome, the thrombocytes are investigated first. The number and size of thrombocytes in the blood can be analysed in a normal blood test. Not only is the thrombocyte count low in Wiskott-Aldrich syndrome, but the platelets that do exist are typically very small.

In somewhat older children with Wiskott-Aldrich syndrome, there are clear functional deviations of the immune system, including abnormal antibody development, poor T lymphocyte function and abnormal levels of immunoglobulins. IgG antibodies are usually within the normal range, IgM antibodies are slightly decreased, while the levels of IgA and particularly IgE antibodies are elevated.

The diagnosis can be confirmed either through DNA analysis or by analysing the WASp protein inside the cells of the immune system. At the time of diagnosis the family should be offered genetic counselling. Carrier and prenatal diagnostics, as well as pre-implantation genetic diagnostics (PGD) in association with IVF (in vitro fertilization), are available in families where the mutation is known.

Treatment/interventions

When a boy has been diagnosed with Wiskott-Aldrich syndrome, there are several possible treatment alternatives. The treatment of choice is haematopoietic stem cell transplantation (bone marrow transplantation), as it is the only treatment that can cure the disorder. Other measures primarily provide symptomatic relief and decrease the risk of infections. Treatment has improved in recent years but complications such as cancer and severe bleeding darken the prognosis, and most untransplanted boys with the classic variant of Wiskott-Aldrich syndrome will not reach adulthood.

Consequently, the possibility of stem cell transplantation should always be considered. The most important factor for successful transplantation is that the procedure is carried out early, preferably in the first few years of life. If the boy has healthy siblings, they should be tested to see if they have the same tissue type (a procedure known as HLA typing) and could thus serve as bone marrow donors. The results of stem cell transplantations when the donor is an HLA-identical sibling are in general very satisfactory. Most of these transplants are successful and result in a total cure of boys with Wiskott-Aldrich syndrome. If there is no sibling with identical tissue type, donors should be sought in a donor registry. The prognosis is equally good with a transplant from an unrelated donor who has the same HLA type as the recipient as when the donor is a sibling - provided that the transplant takes place early in life. The results are less satisfactory when the donor is a family member whose tissue type is only partly compatible with that of the recipient. In such cases, other forms of treatment should be considered. Further information about donors and the transplant procedure is found under the heading “Hematopoietic stem cell transplantation” below.

One important aspect of the treatment of Wiskott-Aldrich syndrome is the prevention of severe bleeding, particularly cerebral bleeding, which may be immediately life-threatening or may cause severe neurological damage. Young boys may need to wear a padded helmet to prevent blows to the head, and as they grow older they should avoid sports and activities with a high risk of injury.

An individual with Wiskott-Aldrich syndrome who begins to bleed heavily should be hospitalised, as special medication or a thrombocyte transfusion may be necessary to help the blood coagulate. Many serious viral infections with a systemic impact, such as influenza, also increase the risk of bleeding, which often necessitates thrombocyte infusion.

The spleen is an abdominal organ, and one of its functions is to serve as a blood filter. In Wiskott-Aldrich syndrome, the spleen filters out the abnormally small thrombocytes and destroys them, leading to thrombocyte deficiency. By removing the spleen, it is possible to normalize the level of thrombocytes in the blood, although the platelets will still be small and function poorly. It has previously been a common practice to remove the spleen in boys for whom no suitable bone marrow donor has been found. However, this intervention is currently not recommended as it has been shown to increase the mortality rate in these boys.

It is vital to take all infections seriously and to treat them early. Antibiotics should be given in all cases of bacterial infection. Special antibiotics may be required in cases of unusual infections. If infections recur at close intervals, continuous treatment for months or years may be necessary.

All patients with Wiskott-Aldrich syndrome require intravenous immunoglobulin substitution (gamma globulin) to combat infection. Immunoglobulin is a concentrate of antibodies drawn from the plasma of several blood donors. The blood from each donor is carefully tested to preclude infections such as hepatitis and HIV. Blood plasma is treated to eliminate risks from viruses or bacteria. The result is a liquid containing purified IgG antibodies as well as very small quantities of IgA and IgM antibodies. As immunoglobulin is a plasma product, there cannot be a 100 per cent guarantee that no contagious substances will be transferred. However, with the procedures and blood donor tests used today, the degree of safety is very high. The number of bacterial infections is substantially reduced with the addition of a correctly-adjusted dose of immunoglobulin in boys with Wiskott-Aldrich syndrome. As a consequence, the risk of corollary tissue damage from repeated infections also decreases.

Immunoglobulin is either administered as an intravenous infusion or as a subcutaneous injection (under the skin). The first alternative is to be preferred in patients with Wiskott-Aldrich syndrome in order to avoid bleeding in the skin. The added antibodies are gradually broken down, so the treatment has to be repeated at intervals of about three weeks or more often if needed.

Eczema is very common in patients with Wiskott-Aldrich syndrome. It is treated primarily with topical hydrocortisone cream, while skin lotions and oil are used to prevent skin dehydration. Anti-itching medications may also be needed, especially at night. In serious cases of eczema, allergy tests may reveal the need to exclude certain foodstuffs from the diet.

Hay fever and asthmatic conditions are treated as they would be in otherwise healthy individuals, with bronchodilators and antihistamines.

Autoimmune reactions are treated to ease the symptoms. Because the aetiology of these reactions is unknown, preventive intervention is not possible.

Haematopoietic stem cell transplantation

All blood cells are produced from blood stem cells (haematopoietic stem cells) in the bone marrow. Blood-forming stem cells can develop into red blood cells (erythrocytes), different kinds of white blood cells including lymphocytes and blood platelets (thrombocytes). In a stem cell transplantation a sick person’s bone marrow is replaced with that of a healthy person. To optimise the chances of successful transplantation, the recipient of the marrow should be as free from infection as possible and in good physical condition. For this reason, it is important to carry out the transplantation at an early stage. The intervention itself is fairly simple, but the preparations, aftercare and major risks make it a highly demanding procedure.

In order to carry out a stem cell transplantation, a donor must be found whose tissue type (HLA type) matches that of the recipient. Ideally the tissue type should be identical. Tissue type is inherited from both parents, and each child has a 25 per cent chance of having the same tissue type as a sick sibling. The optimal solution is to transplant stem cells from an HLA-identical, healthy sibling. If this is not possible a suitable donor may be located in national and international bone marrow donor programmes or in stored, frozen blood from umbilical cords. The “Tobias Registry” in Sweden contains approximately 40,000 registered voluntary donors, and the names of more than 19 million other donors can be found in registers outside Sweden.

Preparatory measures are needed to help the new stem cells engraft and minimise the risk of diseased cells attacking the new donor cells. The recipient of the transplanted cells is treated with chemotherapy. This treatment can be extremely demanding as chemotherapy also impairs the barrier function of the mucous membranes. There is a major risk of developing serious infection and for this reason the child needs to be kept in isolation for a period of weeks, or sometimes months prior to and after the transplantation.

In a blood stem cell transplantation, bone marrow is drawn from the donor’s hip bone and is then administered to the recipient via drip, directly into the bloodstream, much like in a blood transfusion. Blood stem cells can also be collected from the donor’s blood. The blood is then filtered in a special kind of centrifuge which separates the stem cells from the rest of the blood, which can then be returned to the donor. A third option is to use umbilical cord blood from newborns, which is particularly rich in blood stem cells. The blood of newborns has very high levels of blood stem cells and the small amount of blood remaining in the umbilical cord of a healthy newborn can be frozen and saved for later transplantations.

Regardless of their source, the transplanted blood stem cells find their way into the bone cavities of the recipient, and grow in the bone marrow to supply the child with a new immune system.

Practical advice

Be attentive to hand hygiene. Avoid smoky or dusty places, and large crowds of people at times when infections are common.

Be especially careful with regard to food and hygiene during trips abroad as they often increase contact with new types of bacteria. Consult a doctor about what sort of medication and medical supplies should be taken on the trip. For maximum protection against infections, gammagobulin should be administered as close to the time of departure as possible. If immunoglobulin and the infusion equipment are taken abroad, the customs authorities will require a certificate. An information letter in the appropriate language as well as contact details of the attending physician in Sweden should also be taken.
Air humidifiers easily spread bacteria and fungus. If a humidifier is necessary, it should be regularly disinfected with bleach.

National and regional resources in Sweden

Diagnostics, assessment and treatment are provided at the Queen Silvia Children’s Hospital, Department of Paediatric Immunology, SE-416 85 Gothenburg, Sweden.

Resource personnel

Children

Professor Anders Fasth, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00, fax: +46 31 84 30 10, email: anders.fasth@gu.se

Adults

Chief physician Vanda Friman, Infection Clinic, Sahlgrenska University Hospital/Östra, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00.

Courses, exchanges of experience, recreation

PIO (Primary Immunodeficiency Organization) organises regular lectures and information meetings on immunodeficiencies for people with the disease and their relatives. PIO arranges an annual weekend camp for children and with primary immunodeficiency disorders and their families. At regular intervals, PIO and the Nordic immunodeficiency associations organise joint meetings over a few days. They offer excellent opportunities for learning, and exchanging information. For further information contact PIO. Find address under “Organizations for the disabled/patient associations” below.

IPOPI, the International Patient Organisation for Patients with Primary Immunodeficiencies, of which PIO is an affiliate, arranges a conference in conjunction with a biennial international medical conference for doctors and nurses interested in immunodeficiencies. IPOPI conferences are conducted in English. For further information, contact PIO, under “Organizations for the disabled/patient associations.”

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with rare diseases and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. Every year a number of adults with rare diseases also visits Ågrenska. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Organizations for the disabled/patient associations etc.

PIO, The Primary Immunodeficiency Organisation in Sweden, Mellringevägen 120 B, SE-703 53 Örebro, Sweden. Tel: +46 19 673 21 24, email: info@pio.nu, www.pio.nu.

Courses, exchanges of experience for personnel

SLIPI, Swedish Physicians’ Association for Primary Immunodeficiencies organises meetings and conferences, www.slipi.nu.

SISSI, Swedish Nurses’ Association for Primary Immunodeficiencies.The association publishes a worksheet and has regular conferences for members. In alternate years this is organized in collaboration with ESID, IPOPI and INGID, www.sissi.nu.

ESID, European Society for Immunodeficiencies.
The Society has regular international conferences and summer schools for doctors and researchers, www.esid.org.

INGID, International Nursing Group for Immunodeficiencies. The Group arranges international meetings in collaboration with ESID and the international patient organization IPOPI, www.ingid.org.

Research and Development

Research on Wiskott-Aldrich syndrome is currently ongoing in the US and Germany examining, among other things, the function of WASp (Wiskott-Aldrich Syndrome Protein). Gene therapy is also under development.

Contact persons are Luigi D. Notarangelo, Division of Immunology and The Manton Center for Orphan Disease Research, Children’s Hospital, Harvard Medical School, Boston MA 02115, USA, and Klaus Schwarz, Transfusion Medicine, University of Ulm, Helmholzstr. 10, D-89081 Ulm, Germany.

Information material

Short summaries of all the information texts in the Rare Disease Database of the National Board of Health and Welfare are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version of each text, and then clicking on the leaflet icon which will appear under “Mer hos oss” in the column on the right-hand side.

IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, 5th Edition, USA 2013. This book may be downloaded as a PDF file from the organisation’s website, http://primaryimmune.org/idf-publications.

The material below can be ordered from PIO (Primary Immunodeficiency Organization). See contact information under “Organizations for the disabled/patient associations etc.” Unless otherwise mentioned, in Swedish only.

  • Primär immunbrist hos barn och vuxna. Ninth edition, 2010.
  • Så mår immunförsvaret bättre. Living with primary immunodeficiency. Some practical advice. 1999.
  • The story of primary immunodeficiency (in English) 1999.
  • En skola för alla (in Swedish only). Practical advice on creating a better school environment for those with primary immunodeficiency. One brochure for the institution and one for the student. Third edition, 2012.
  • Studera med primär immunbrist (in Swedish only). Practical advice for university or college students with primary immunodeficiency. One brochure for the institution and one for the student. First edition, 2008.
  • Lathund för ansökan av vårdbidrag. Updated, 2012.

Literature

Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K et al. X-linked thrombocytopenia (XLT) due to WASP mutations: Clinical characteristics, long-term outcome and treatment options. Blood 2010; 115: 3231-3238.

Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C et al. Primary Immunodeficiency Diseases: an update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol 2011; 2: 54.

Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954; 13: 133-139.

Ariga T, Nakajima M, Yoshida J, Yamato K, Nagatoshi Y, Yanai Fet al. Confirming or Excluding the Diagnosis of Wiskott-Aldrich Syndrome in children with thrombocytepenia of an unknown etiology. J Pediatr Hematol Oncol 2004; 26: 435-440.

Becker-Herman S, Meyer-Bahlburg A, Schwartz MA, Jackson SW, Hudkins KL, Liu C et al. WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity. J Exp Med 2011; 208: 2033-2042.

Davis BR, Dicola MJ, Prokopishyn NL, Rosenberg JB, Moratto D, Muul LM et al. Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome. Blood 2008; 111: 5064-5067.

Facchetti F, Blanzuoli L, Vermi W, Notarangelo LD, Giliani S, Fiorini M et al. Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. J Patol 1998; 185: 99-107.

Filipovich AH, Stone JV, Tomany SC, Ireland M, Kollman C, Pelz CJ et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood 2001; 97: 1598-1603.

Galy A, Thrasher AJ. Gene therapy for the Wiskott-Aldrich syndrome. Curr Opin Allergy Clin Immunol 2011; 11: 545-550.

Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P et al on behalf of members of European Group for Blood and Marrow Transplantation and European Society for Immunodeficiency. Long Term Survival and Transplantation of Haematopoietic Stem Cells for Primary Immunodeficiencies; Report of the European Experience 1968-2005. J Allerg Clin Immunol 2010; 126: 602-610.

Kajiwara M, Nonoyama S, Eguchi M, Morio T, Imai K, Okawa H et al. WASP is involved in proliferation and differentiation of human haematopoietic progenitors in vitro. Br J Haematol 1999; 107: 254-262.

Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T et al. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med 2012; 209: 29-34.

Lorenzi R, Brickell PM, Katz DR, Kinnon C, Trasher AJ. Wiskott-Aldrich syndrome protein is necessary for efficient IgG-mediated phagocytosis. Blood 2000; 95: 2943-2946.

Notarangelo Ld, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol 2008; 15: 30-36.

Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Schulz A, Thrasher AJ, Mazzolari E et al. Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. Blood 2008; 111: 439-445.

Savoy DN, Billadeau DD, Leibson PJ. Cutting edge: WIP, a binding partner for Wiskott-Aldrich syndrome protein cooperates with Vav in the regulation of T cell activation. J Immunol 2000; 164: 2866-2870.

Schurman SH, Candotti F. Autoimmunity in Wiskott-Aldrich syndrome. Curr Opin Rheumatol 2003; 15: 446-453.

Shcherbina A, Rosen FS, Remold-O´Donnell E. WASP levels in platelets and lymphocytes of Wiskott-Aldrich syndrome protein correlate with cell dysfunction. J Immunol 1999; 163: 6314-6320.

Shin CR, Kim MO, Li D, Bleesing JJ, Harris R, Mehta P et al. Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. Bone Marrow Transplant. 2012; 47: 1428-1435.

Wiskott A. Familiärer, angeborener Morbus Werlhoffi? Monatsschrift für Kinderheilkunde 1937; 68: 212.

Databasreferenser

OMIM (Online Mendelian Inheritance in Man)
www.ncbi.nlm.nih.gov/omim 
Search: Wiskott-Aldrich syndrome

GeneReviews (University of Washington)
www.genetests.org (select “GeneReviews”, then “Titles”)
search: WAS-related disorders

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Professor Anders Fasth, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Publication date: 2013-03-12
Version: 4.0
Publication date of the Swedish version: 2012-11-29

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.

 

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