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Wiskott-Aldrich syndrome(WAS)

MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
Synonyms: Aldrich syndrome; Eczema thrombocytopenia immunodeficiency syndrome; IMD 2; Immunodeficiency 2; WAS; WAS-Related Disorders; Wiskott Aldrich Syndrome; WISKOTT-ALDRICH SYNDROME 1; Wiskott-aldrich syndrome, somatic
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, will be unaffected.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Describes a disorder that is not inherited.
SNOMED CT: Eczema, thrombocytopenia, immunodeficiency syndrome (36070007); WAS - Wiskott-Aldrich syndrome (36070007); Aldrich syndrome (36070007); Wiskott-Aldrich syndrome (36070007); Immunodeficiency with thrombocytopenia AND eczema (36070007)
 
OMIM®: 277970; 301000
Orphanet: ORPHA906

Disease characteristics

Excerpted from the GeneReview: WAS-Related Disorders
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly recurrent ear infections. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura (ITP), immune-mediated neutropenia, arthritis, vasculitis of small and large vessels, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), have an increased risk of developing lymphomas, which often occur in unusual, extranodal locations such as the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are mild or absent. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Alexandra H Filipovich  |  Judith Johnson  |  Kejian Zhang   view full author information

Additional descriptions

From OMIM
Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (Lemahieu et al., 1999).  http://www.omim.org/entry/301000
From GHR
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising or episodes of prolonged bleeding following minor trauma. Wiskott-Aldrich syndrome causes many types of white blood cells, which are part of the immune system, to be abnormal or nonfunctional, leading to an increased risk of several immune and inflammatory disorders. Many people with this condition develop eczema, an inflammatory skin disorder characterized by abnormal patches of red, irritated skin. Affected individuals also have an increased susceptibility to infection. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing some types of cancer, such as cancer of the immune system cells (lymphoma), is also greater in people with Wiskott-Aldrich syndrome.  http://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome

Clinical features

Neoplasm
MedGen UID:
227011
Concept ID:
C1306459
Finding
A malignant tumor at the original site of growth.
Nephropathy
MedGen UID:
504346
Concept ID:
CN000110
Finding
A nonspecific term referring to disease or damage of the kidneys.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Finding
The flowing of blood from the marginal gingival area, particularly the sulcus, seen in such conditions as GINGIVITIS, marginal PERIODONTITIS, injury, and ASCORBIC ACID DEFICIENCY.
Epistaxis
MedGen UID:
776578
Concept ID:
C2228238
Finding
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Meningitis
MedGen UID:
504788
Concept ID:
CN001179
Finding
Inflammation of the meninges.
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Disease or Syndrome
The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage.
Diarrhea
MedGen UID:
368098
Concept ID:
C1963091
Finding
Inflammation of the large intestine
MedGen UID:
505065
Concept ID:
CN001842
Finding
Hematemesis
MedGen UID:
505169
Concept ID:
CN002039
Finding
The vomiting of blood.
Melena
MedGen UID:
505170
Concept ID:
CN002040
Finding
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A disorder characterized by hemorrhagic areas of the skin and mucous membrane. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
Eczema
MedGen UID:
504663
Concept ID:
CN000902
Finding
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Petechiae
MedGen UID:
504665
Concept ID:
CN000905
Finding
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Disease or Syndrome
The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A disorder characterized by hemorrhagic areas of the skin and mucous membrane. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
Petechiae
MedGen UID:
504665
Concept ID:
CN000905
Finding
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
Hematemesis
MedGen UID:
505169
Concept ID:
CN002039
Finding
The vomiting of blood.
Melena
MedGen UID:
505170
Concept ID:
CN002040
Finding
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Large vessel vasculitis
MedGen UID:
505792
Concept ID:
CN004711
Finding
A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.
Small vessel vasculitis
MedGen UID:
489528
Concept ID:
CN167670
Finding
A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Finding
The flowing of blood from the marginal gingival area, particularly the sulcus, seen in such conditions as GINGIVITIS, marginal PERIODONTITIS, injury, and ASCORBIC ACID DEFICIENCY.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Disease or Syndrome
The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A disorder characterized by hemorrhagic areas of the skin and mucous membrane. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Abnormal delayed hypersensitivity skin test
MedGen UID:
322137
Concept ID:
C1833172
Finding
Absent microvilli on the surface of peripheral blood lymphocytes
MedGen UID:
322138
Concept ID:
C1833173
Finding
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Lymphopenia
MedGen UID:
409568
Concept ID:
C1963164
Finding
Epistaxis
MedGen UID:
776578
Concept ID:
C2228238
Finding
Petechiae
MedGen UID:
504665
Concept ID:
CN000905
Finding
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
Hemolytic anemia
MedGen UID:
504983
Concept ID:
CN001698
Finding
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Iron deficiency anemia
MedGen UID:
504991
Concept ID:
CN001710
Finding
Reduced lymphocyte surface expression of CD43 (sialophorin)
MedGen UID:
500918
Concept ID:
CN001795
Finding
A reduction in the expression of CD43 on the cell surface of lymphocytes.
Hematemesis
MedGen UID:
505169
Concept ID:
CN002039
Finding
The vomiting of blood.
Melena
MedGen UID:
505170
Concept ID:
CN002040
Finding
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Specific anti-polysaccharide antibody deficiency
MedGen UID:
760151
Concept ID:
CN002573
Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
IgM deficiency
MedGen UID:
505372
Concept ID:
CN002575
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Increased IgA level
MedGen UID:
505500
Concept ID:
CN002944
Finding
An abnormally increased level of immunoglobulin A in blood.
Decreased mean platelet volume
MedGen UID:
428536
Concept ID:
CN004904
Finding
Average platelet volume below the lower limit of the normal reference interval.
Abnormal delayed hypersensitivity skin test
MedGen UID:
322137
Concept ID:
C1833172
Finding
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Specific anti-polysaccharide antibody deficiency
MedGen UID:
760151
Concept ID:
CN002573
Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
IgM deficiency
MedGen UID:
505372
Concept ID:
CN002575
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Increased IgA level
MedGen UID:
505500
Concept ID:
CN002944
Finding
An abnormally increased level of immunoglobulin A in blood.
Pneumonia
MedGen UID:
505095
Concept ID:
CN001891
Finding
Inflammation of any part of the lung parenchyma.
Recurrent lower respiratory tract infections
MedGen UID:
425110
Concept ID:
CN002518
Finding
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Abnormal delayed hypersensitivity skin test
MedGen UID:
322137
Concept ID:
C1833172
Finding
Absent microvilli on the surface of peripheral blood lymphocytes
MedGen UID:
322138
Concept ID:
C1833173
Finding
Increased IgE level
MedGen UID:
374150
Concept ID:
C1839165
Finding
Lymphopenia
MedGen UID:
409568
Concept ID:
C1963164
Finding
Reduced lymphocyte surface expression of CD43 (sialophorin)
MedGen UID:
500918
Concept ID:
CN001795
Finding
A reduction in the expression of CD43 on the cell surface of lymphocytes.
Abnormality of the immune system
MedGen UID:
427926
Concept ID:
CN002465
Finding
An abnormality of the immune system.
Recurrent lower respiratory tract infections
MedGen UID:
425110
Concept ID:
CN002518
Finding
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Specific anti-polysaccharide antibody deficiency
MedGen UID:
760151
Concept ID:
CN002573
Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
IgM deficiency
MedGen UID:
505372
Concept ID:
CN002575
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Increased IgA level
MedGen UID:
505500
Concept ID:
CN002944
Finding
An abnormally increased level of immunoglobulin A in blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGWiskott-Aldrich syndrome

Recent clinical studies

Etiology

Wu J, Liu D, Tu W, Song W, Zhao X
J Allergy Clin Immunol 2015 Jan;135(1):209-16. Epub 2014 Aug 1 doi: 10.1016/j.jaci.2014.06.025. [Epub ahead of print] PMID: 25091438
Borte S, Fasth A, von Döbeln U, Winiarski J, Hammarström L
Clin Immunol 2014 Nov;155(1):74-8. Epub 2014 Sep 15 doi: 10.1016/j.clim.2014.09.003. [Epub ahead of print] PMID: 25217881
Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Göhring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kühlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Maródi L, Glimm H, Schlegelberger B, Schambach A, Albert MH, Schmidt M, von Kalle C, Klein C
Sci Transl Med 2014 Mar 12;6(227):227ra33. doi: 10.1126/scitranslmed.3007280. PMID: 24622513
Castiello MC, Bosticardo M, Pala F, Catucci M, Chamberlain N, van Zelm MC, Driessen GJ, Pac M, Bernatowska E, Scaramuzza S, Aiuti A, Sauer AV, Traggiai E, Meffre E, Villa A, van der Burg M
J Autoimmun 2014 May;50:42-50. Epub 2013 Dec 25 doi: 10.1016/j.jaut.2013.10.006. [Epub ahead of print] PMID: 24369837Free PMC Article
Jesenak M, Plamenova I, Plank L, Banovcin P
Pediatr Dermatol 2013 Sep-Oct;30(5):e91-3. Epub 2012 Nov 12 doi: 10.1111/pde.12040. [Epub ahead of print] PMID: 23157619

Diagnosis

Sarkar K, Sadhukhan S, Han SS, Vyas YM
Blood 2014 Nov 27;124(23):3409-19. Epub 2014 Sep 24 doi: 10.1182/blood-2014-07-587642. [Epub ahead of print] PMID: 25253772Free PMC Article
Borte S, Fasth A, von Döbeln U, Winiarski J, Hammarström L
Clin Immunol 2014 Nov;155(1):74-8. Epub 2014 Sep 15 doi: 10.1016/j.clim.2014.09.003. [Epub ahead of print] PMID: 25217881
Boonyawat B, Dhanraj S, Al Abbas F, Zlateska B, Grunenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer SW, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, Dror Y
J Clin Immunol 2013 Oct;33(7):1150-5. Epub 2013 Aug 14 doi: 10.1007/s10875-013-9927-9. [Epub ahead of print] PMID: 23943155
Tavil B, Erdem AY, Azik F, Isik P, Metin A, Emir S, Uckan D, Tunc B
Pediatr Transplant 2013 Sep;17(6):E146-8. Epub 2013 Jun 17 doi: 10.1111/petr.12114. [Epub ahead of print] PMID: 23773507
Zhang S, Zhang R, Chen C, Sun J
Fetal Pediatr Pathol 2013 Jul;32(4):312-5. Epub 2013 Jan 10 doi: 10.3109/15513815.2012.754530. [Epub ahead of print] PMID: 23301916

Therapy

Hacein-Bey Abina S, Gaspar HB, Blondeau J, Caccavelli L, Charrier S, Buckland K, Picard C, Six E, Himoudi N, Gilmour K, McNicol AM, Hara H, Xu-Bayford J, Rivat C, Touzot F, Mavilio F, Lim A, Treluyer JM, Héritier S, Lefrère F, Magalon J, Pengue-Koyi I, Honnet G, Blanche S, Sherman EA, Male F, Berry C, Malani N, Bushman FD, Fischer A, Thrasher AJ, Galy A, Cavazzana M
JAMA 2015 Apr 21;313(15):1550-63. doi: 10.1001/jama.2015.3253. PMID: 25898053
Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Göhring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kühlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Maródi L, Glimm H, Schlegelberger B, Schambach A, Albert MH, Schmidt M, von Kalle C, Klein C
Sci Transl Med 2014 Mar 12;6(227):227ra33. doi: 10.1126/scitranslmed.3007280. PMID: 24622513
Boonyawat B, Dhanraj S, Al Abbas F, Zlateska B, Grunenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer SW, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, Dror Y
J Clin Immunol 2013 Oct;33(7):1150-5. Epub 2013 Aug 14 doi: 10.1007/s10875-013-9927-9. [Epub ahead of print] PMID: 23943155
Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C, Dionisio F, Calabria A, Giannelli S, Castiello MC, Bosticardo M, Evangelio C, Assanelli A, Casiraghi M, Di Nunzio S, Callegaro L, Benati C, Rizzardi P, Pellin D, Di Serio C, Schmidt M, Von Kalle C, Gardner J, Mehta N, Neduva V, Dow DJ, Galy A, Miniero R, Finocchi A, Metin A, Banerjee PP, Orange JS, Galimberti S, Valsecchi MG, Biffi A, Montini E, Villa A, Ciceri F, Roncarolo MG, Naldini L
Science 2013 Aug 23;341(6148):1233151. Epub 2013 Jul 11 doi: 10.1126/science.1233151. [Epub ahead of print] PMID: 23845947Free PMC Article
Tavil B, Erdem AY, Azik F, Isik P, Metin A, Emir S, Uckan D, Tunc B
Pediatr Transplant 2013 Sep;17(6):E146-8. Epub 2013 Jun 17 doi: 10.1111/petr.12114. [Epub ahead of print] PMID: 23773507

Prognosis

Borte S, Fasth A, von Döbeln U, Winiarski J, Hammarström L
Clin Immunol 2014 Nov;155(1):74-8. Epub 2014 Sep 15 doi: 10.1016/j.clim.2014.09.003. [Epub ahead of print] PMID: 25217881
Mahlaoui N, Pellier I, Mignot C, Jais JP, Bilhou-Nabéra C, Moshous D, Neven B, Picard C, de Saint-Basile G, Cavazzana-Calvo M, Blanche S, Fischer A
Blood 2013 Feb 28;121(9):1510-6. Epub 2012 Dec 20 doi: 10.1182/blood-2012-08-448118. [Epub ahead of print] PMID: 23264593
Jesenak M, Plamenova I, Plank L, Banovcin P
Pediatr Dermatol 2013 Sep-Oct;30(5):e91-3. Epub 2012 Nov 12 doi: 10.1111/pde.12040. [Epub ahead of print] PMID: 23157619
Shin CR, Kim MO, Li D, Bleesing JJ, Harris R, Mehta P, Jodele S, Jordan MB, Marsh RA, Davies SM, Filipovich AH
Bone Marrow Transplant 2012 Nov;47(11):1428-35. Epub 2012 Mar 19 doi: 10.1038/bmt.2012.31. [Epub ahead of print] PMID: 22426750
Yoon SH, Cho T, Kim HJ, Kim SY, Ko JH, Baek HS, Lee HJ, Lee CH
Pediatr Blood Cancer 2012 Feb;58(2):297-9. Epub 2011 Oct 28 doi: 10.1002/pbc.23377. [Epub ahead of print] PMID: 22038941

Clinical prediction guides

Hacein-Bey Abina S, Gaspar HB, Blondeau J, Caccavelli L, Charrier S, Buckland K, Picard C, Six E, Himoudi N, Gilmour K, McNicol AM, Hara H, Xu-Bayford J, Rivat C, Touzot F, Mavilio F, Lim A, Treluyer JM, Héritier S, Lefrère F, Magalon J, Pengue-Koyi I, Honnet G, Blanche S, Sherman EA, Male F, Berry C, Malani N, Bushman FD, Fischer A, Thrasher AJ, Galy A, Cavazzana M
JAMA 2015 Apr 21;313(15):1550-63. doi: 10.1001/jama.2015.3253. PMID: 25898053
Borte S, Fasth A, von Döbeln U, Winiarski J, Hammarström L
Clin Immunol 2014 Nov;155(1):74-8. Epub 2014 Sep 15 doi: 10.1016/j.clim.2014.09.003. [Epub ahead of print] PMID: 25217881
Castiello MC, Bosticardo M, Pala F, Catucci M, Chamberlain N, van Zelm MC, Driessen GJ, Pac M, Bernatowska E, Scaramuzza S, Aiuti A, Sauer AV, Traggiai E, Meffre E, Villa A, van der Burg M
J Autoimmun 2014 May;50:42-50. Epub 2013 Dec 25 doi: 10.1016/j.jaut.2013.10.006. [Epub ahead of print] PMID: 24369837Free PMC Article
Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C, Dionisio F, Calabria A, Giannelli S, Castiello MC, Bosticardo M, Evangelio C, Assanelli A, Casiraghi M, Di Nunzio S, Callegaro L, Benati C, Rizzardi P, Pellin D, Di Serio C, Schmidt M, Von Kalle C, Gardner J, Mehta N, Neduva V, Dow DJ, Galy A, Miniero R, Finocchi A, Metin A, Banerjee PP, Orange JS, Galimberti S, Valsecchi MG, Biffi A, Montini E, Villa A, Ciceri F, Roncarolo MG, Naldini L
Science 2013 Aug 23;341(6148):1233151. Epub 2013 Jul 11 doi: 10.1126/science.1233151. [Epub ahead of print] PMID: 23845947Free PMC Article
Toscano MG, Anderson P, Muñoz P, Lucena G, Cobo M, Benabdellah K, Gregory PD, Holmes MC, Martin F
Dis Model Mech 2013 Mar;6(2):544-54. Epub 2013 Jan 11 doi: 10.1242/dmm.010652. [Epub ahead of print] PMID: 23324327Free PMC Article

Recent systematic reviews

Sossey-Alaoui K
Semin Cell Dev Biol 2013 Apr;24(4):287-97. Epub 2012 Oct 29 doi: 10.1016/j.semcdb.2012.10.006. [Epub ahead of print] PMID: 23116924Free PMC Article
Trobridge GD
Expert Opin Biol Ther 2011 May;11(5):581-93. Epub 2011 Mar 7 doi: 10.1517/14712598.2011.562496. [Epub ahead of print] PMID: 21375467Free PMC Article
Albert MH, Notarangelo LD, Ochs HD
Curr Opin Hematol 2011 Jan;18(1):42-8. doi: 10.1097/MOH.0b013e32834114bc. PMID: 21076297
Tommasini A, Pirrone A, Palla G, Taddio A, Martelossi S, Crovella S, Ventura A
Scand J Gastroenterol 2010 Oct;45(10):1141-9. doi: 10.3109/00365521.2010.492529. PMID: 20497046
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