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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 1; Wiskott-aldrich syndrome, somatic
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
X-linked recessive inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Eczema, thrombocytopenia, immunodeficiency syndrome (36070007); WAS - Wiskott-Aldrich syndrome (36070007); Aldrich syndrome (36070007); Wiskott Aldrich syndrome (36070007); Wiskott-Aldrich syndrome (36070007); Immunodeficiency with thrombocytopenia AND eczema (36070007)
 
OMIM®: 277970; 301000
Orphanet: ORPHA906

Definition

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 of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, 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), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including 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 usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities. [from GTR]

Additional descriptions

From GeneReviews
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 of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, 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), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including 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 usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.  https://www.ncbi.nlm.nih.gov/books/NBK1178
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 cell fragments 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.  https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome

Clinical features

Neoplasm
MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.
Nephropathy
MedGen UID:
898017
Concept ID:
C1408258
Finding
A nonspecific term referring to disease or damage of the kidneys.
Hematemesis
MedGen UID:
6770
Concept ID:
C0018926
Finding
The vomiting of blood.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of bright red blood from the rectum. The blood may or may not be mixed with formed stool in the form of blood, blood clots, bloody stool or diarrhea.
Melena
MedGen UID:
7523
Concept ID:
C0025222
Pathologic Function
Abnormally dark tarry feces containing blood, usually from gastrointestinal bleeding.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
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.
Hematemesis
MedGen UID:
6770
Concept ID:
C0018926
Finding
The vomiting of blood.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of bright red blood from the rectum. The blood may or may not be mixed with formed stool in the form of blood, blood clots, bloody stool or diarrhea.
Melena
MedGen UID:
7523
Concept ID:
C0025222
Pathologic Function
Abnormally dark tarry feces containing blood, usually from gastrointestinal bleeding.
Inflammation of the large intestine
MedGen UID:
662273
Concept ID:
C0578878
Pathologic Function
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Bleeding from the nose.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Finding
Hemorrhage affecting the gingiva.
Hematemesis
MedGen UID:
6770
Concept ID:
C0018926
Finding
The vomiting of blood.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Finding
The passage of bright red blood from the rectum. The blood may or may not be mixed with formed stool in the form of blood, blood clots, bloody stool or diarrhea.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Melena
MedGen UID:
7523
Concept ID:
C0025222
Pathologic Function
Abnormally dark tarry feces containing blood, usually from gastrointestinal bleeding.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A small blood vessel hemorrhage into the skin and/or mucous membranes. 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 laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
Iron deficiency anemia
MedGen UID:
57668
Concept ID:
C0162316
Disease or Syndrome
Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.
Ige, elevated level of
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased level of immunoglobulin E in blood.
Increased IgA level
MedGen UID:
66800
Concept ID:
C0239984
Finding
An abnormally increased level of immunoglobulin A in blood.
IgM deficiency
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Abnormal delayed hypersensitivity skin test
MedGen UID:
322137
Concept ID:
C1833172
Finding
Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.
Absent microvilli on the surface of peripheral blood lymphocytes
MedGen UID:
322138
Concept ID:
C1833173
Finding
Decreased mean platelet volume
MedGen UID:
322140
Concept ID:
C1833182
Finding
Average platelet volume below the lower limit of the normal reference interval.
Reduced lymphocyte surface expression of CD43
MedGen UID:
867397
Concept ID:
C4021766
Finding
A reduction in the expression of CD43 on the cell surface of lymphocytes.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, due to infections (viruses, fungi, mycoplasma, or bacteria), treatment (e.g. radiation), or exposure (inhalation) to chemicals. Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
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).
Recurrent lower respiratory tract infections
MedGen UID:
108443
Concept ID:
C0585953
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Nephropathy
MedGen UID:
898017
Concept ID:
C1408258
Finding
A nonspecific term referring to disease or damage of the kidneys.
Eczematous rash
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
A form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent.(NICHD)
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE.
Sinusitis
MedGen UID:
14608
Concept ID:
C0030469
Disease or Syndrome
A non-neoplastic or neoplastic disorder affecting the paranasal sinuses. Examples include inflammation, polyps, and cancer.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, due to infections (viruses, fungi, mycoplasma, or bacteria), treatment (e.g. radiation), or exposure (inhalation) to chemicals. Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.
Ige, elevated level of
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased level of immunoglobulin E in blood.
Increased IgA level
MedGen UID:
66800
Concept ID:
C0239984
Finding
An abnormally increased level of immunoglobulin A in blood.
IgM deficiency
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Inflammation of the large intestine
MedGen UID:
662273
Concept ID:
C0578878
Pathologic Function
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
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).
Recurrent lower respiratory tract infections
MedGen UID:
108443
Concept ID:
C0585953
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Abnormal delayed hypersensitivity skin test
MedGen UID:
322137
Concept ID:
C1833172
Finding
Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.
Absent microvilli on the surface of peripheral blood lymphocytes
MedGen UID:
322138
Concept ID:
C1833173
Finding
Specific anti-polysaccharide antibody deficiency
MedGen UID:
867382
Concept ID:
C4021747
Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
Reduced lymphocyte surface expression of CD43
MedGen UID:
867397
Concept ID:
C4021766
Finding
A reduction in the expression of CD43 on the cell surface of lymphocytes.
Ige, elevated level of
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased level of immunoglobulin E in blood.
Increased IgA level
MedGen UID:
66800
Concept ID:
C0239984
Finding
An abnormally increased level of immunoglobulin A in blood.
IgM deficiency
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Abnormal delayed hypersensitivity skin test
MedGen UID:
322137
Concept ID:
C1833172
Finding
Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.
Sinusitis
MedGen UID:
14608
Concept ID:
C0030469
Disease or Syndrome
A non-neoplastic or neoplastic disorder affecting the paranasal sinuses. Examples include inflammation, polyps, and cancer.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Bleeding from the nose.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Finding
Hemorrhage affecting the gingiva.
Oral bleeding
MedGen UID:
10459
Concept ID:
C0029163
Finding
Bleeding from the blood vessels of the mouth, which may occur as a result of injuries to the mouth, accidents in oral surgery, or diseases of the gums.
Sinusitis
MedGen UID:
14608
Concept ID:
C0030469
Disease or Syndrome
A non-neoplastic or neoplastic disorder affecting the paranasal sinuses. Examples include inflammation, polyps, and cancer.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
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).
Eczematous rash
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
A form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent.(NICHD)
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWiskott-Aldrich syndrome
Follow this link to review classifications for Wiskott-Aldrich syndrome in Orphanet.

Recent clinical studies

Etiology

Morris EC, Fox T, Chakraverty R, Tendeiro R, Snell K, Rivat C, Grace S, Gilmour K, Workman S, Buckland K, Butler K, Chee R, Salama AD, Ibrahim H, Hara H, Duret C, Mavilio F, Male F, Bushman FD, Galy A, Burns SO, Gaspar HB, Thrasher AJ
Blood 2017 Sep 14;130(11):1327-1335. Epub 2017 Jul 17 doi: 10.1182/blood-2017-04-777136. PMID: 28716862
Eghbali M, Sadeghi-Shabestari M, Najmi Varzaneh F, Zare Bidoki A, Rezaei N
Allergol Immunopathol (Madr) 2016 Sep-Oct;44(5):450-4. Epub 2016 Mar 15 doi: 10.1016/j.aller.2015.11.002. PMID: 26993433
Chen N, Zhang ZY, Liu DW, Liu W, Tang XM, Zhao XD
Eur J Pediatr 2015 Oct;174(10):1311-8. Epub 2015 Apr 16 doi: 10.1007/s00431-015-2527-3. PMID: 25877044
Xie JW, Zhang ZY, Wu JF, Liu DW, Liu W, Zhao Y, Jiang LP, Tang XM, Wang M, Zhao XD
Hum Immunol 2015 Jun;76(6):406-13. Epub 2015 Apr 8 doi: 10.1016/j.humimm.2015.04.001. PMID: 25862925
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. PMID: 25091438

Diagnosis

Baharin MF, Dhaliwal JS, Sarachandran SV, Idris SZ, Yeoh SL
J Med Case Rep 2016 Jun 29;10(1):188. doi: 10.1186/s13256-016-0944-1. PMID: 27356510Free PMC Article
Eghbali M, Sadeghi-Shabestari M, Najmi Varzaneh F, Zare Bidoki A, Rezaei N
Allergol Immunopathol (Madr) 2016 Sep-Oct;44(5):450-4. Epub 2016 Mar 15 doi: 10.1016/j.aller.2015.11.002. PMID: 26993433
Sasahara Y
Pediatr Int 2016 Jan;58(1):4-7. Epub 2015 Dec 5 doi: 10.1111/ped.12819. PMID: 26331277
Chovancova Z, Kuman M, Vlkova M, Litzman J
Transpl Int 2015 Aug;28(8):1005-9. Epub 2015 Apr 30 doi: 10.1111/tri.12583. PMID: 25864580
Gulácsy V, Soltész B, Petrescu C, Bataneant M, Gyimesi E, Serban M, Maródi L, Tóth B
Eur J Haematol 2015 Jul;95(1):93-8. Epub 2014 Oct 18 doi: 10.1111/ejh.12424. PMID: 25082437

Therapy

Morris EC, Fox T, Chakraverty R, Tendeiro R, Snell K, Rivat C, Grace S, Gilmour K, Workman S, Buckland K, Butler K, Chee R, Salama AD, Ibrahim H, Hara H, Duret C, Mavilio F, Male F, Bushman FD, Galy A, Burns SO, Gaspar HB, Thrasher AJ
Blood 2017 Sep 14;130(11):1327-1335. Epub 2017 Jul 17 doi: 10.1182/blood-2017-04-777136. PMID: 28716862
Jyonouchi S, Gwafila B, Gwalani LA, Ahmad M, Moertel C, Holbert C, Kim JY, Kobrinsky N, Roy-Ghanta S, Orange JS
Clin Immunol 2017 Jun;179:47-53. Epub 2017 Feb 14 doi: 10.1016/j.clim.2017.02.001. PMID: 28232030
Pala F, Morbach H, Castiello MC, Schickel JN, Scaramuzza S, Chamberlain N, Cassani B, Glauzy S, Romberg N, Candotti F, Aiuti A, Bosticardo M, Villa A, Meffre E
J Clin Invest 2015 Oct 1;125(10):3941-51. Epub 2015 Sep 14 doi: 10.1172/JCI82249. PMID: 26368308Free PMC Article
Chen N, Zhang ZY, Liu DW, Liu W, Tang XM, Zhao XD
Eur J Pediatr 2015 Oct;174(10):1311-8. Epub 2015 Apr 16 doi: 10.1007/s00431-015-2527-3. PMID: 25877044
Castiello MC, Scaramuzza S, Pala F, Ferrua F, Uva P, Brigida I, Sereni L, van der Burg M, Ottaviano G, Albert MH, Grazia Roncarolo M, Naldini L, Aiuti A, Villa A, Bosticardo M
J Allergy Clin Immunol 2015 Sep;136(3):692-702.e2. Epub 2015 Mar 16 doi: 10.1016/j.jaci.2015.01.035. PMID: 25792466Free PMC Article

Prognosis

Jyonouchi S, Gwafila B, Gwalani LA, Ahmad M, Moertel C, Holbert C, Kim JY, Kobrinsky N, Roy-Ghanta S, Orange JS
Clin Immunol 2017 Jun;179:47-53. Epub 2017 Feb 14 doi: 10.1016/j.clim.2017.02.001. PMID: 28232030
Vignesh P, Suri D, Rawat A, Lau YL, Bhatia A, Das A, Srinivasan A, Dhandapani S
Pediatr Blood Cancer 2017 Jan;64(1):106-109. Epub 2016 Aug 27 doi: 10.1002/pbc.26196. PMID: 27566838
Liu DW, Zhang ZY, Zhao Q, Jiang LP, Liu W, Tu WW, Song WX, Zhao XD
Pediatr Blood Cancer 2015 Sep;62(9):1601-8. Epub 2015 Apr 30 doi: 10.1002/pbc.25559. PMID: 25931402
Chen N, Zhang ZY, Liu DW, Liu W, Tang XM, Zhao XD
Eur J Pediatr 2015 Oct;174(10):1311-8. Epub 2015 Apr 16 doi: 10.1007/s00431-015-2527-3. PMID: 25877044
Xie JW, Zhang ZY, Wu JF, Liu DW, Liu W, Zhao Y, Jiang LP, Tang XM, Wang M, Zhao XD
Hum Immunol 2015 Jun;76(6):406-13. Epub 2015 Apr 8 doi: 10.1016/j.humimm.2015.04.001. PMID: 25862925

Clinical prediction guides

Morris EC, Fox T, Chakraverty R, Tendeiro R, Snell K, Rivat C, Grace S, Gilmour K, Workman S, Buckland K, Butler K, Chee R, Salama AD, Ibrahim H, Hara H, Duret C, Mavilio F, Male F, Bushman FD, Galy A, Burns SO, Gaspar HB, Thrasher AJ
Blood 2017 Sep 14;130(11):1327-1335. Epub 2017 Jul 17 doi: 10.1182/blood-2017-04-777136. PMID: 28716862
Jyonouchi S, Gwafila B, Gwalani LA, Ahmad M, Moertel C, Holbert C, Kim JY, Kobrinsky N, Roy-Ghanta S, Orange JS
Clin Immunol 2017 Jun;179:47-53. Epub 2017 Feb 14 doi: 10.1016/j.clim.2017.02.001. PMID: 28232030
Xie JW, Zhang ZY, Wu JF, Liu DW, Liu W, Zhao Y, Jiang LP, Tang XM, Wang M, Zhao XD
Hum Immunol 2015 Jun;76(6):406-13. Epub 2015 Apr 8 doi: 10.1016/j.humimm.2015.04.001. PMID: 25862925
Castiello MC, Scaramuzza S, Pala F, Ferrua F, Uva P, Brigida I, Sereni L, van der Burg M, Ottaviano G, Albert MH, Grazia Roncarolo M, Naldini L, Aiuti A, Villa A, Bosticardo M
J Allergy Clin Immunol 2015 Sep;136(3):692-702.e2. Epub 2015 Mar 16 doi: 10.1016/j.jaci.2015.01.035. PMID: 25792466Free PMC Article
Zhu X, Tang B, Zheng C, Liu H, Song K, Sun Z
Blood Cells Mol Dis 2014 Dec;53(4):283-5. Epub 2014 May 11 doi: 10.1016/j.bcmd.2014.03.002. PMID: 24824128

Recent systematic reviews

Sowalsky AG, Sager R, Schaefer RJ, Bratslavsky G, Pandolfi PP, Balk SP, Kotula L
Oncotarget 2015 May 20;6(14):12383-91. doi: 10.18632/oncotarget.3564. PMID: 25906751Free PMC Article
Sossey-Alaoui K
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