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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; WISKOTT-ALDRICH SYNDROME 1; Wiskott-aldrich syndrome, somatic
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)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same 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
Source: 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
Source: 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 genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): WAS (Xp11.23)
 
Monarch Initiative: MONDO:0010518
OMIM®: 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 neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, 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 small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities. [from GeneReviews]
Authors:
Sharat Chandra  |  Chinmayee B Nagaraj  |  Miao Sun, et. al.   view full author information

Additional descriptions

From OMIM
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (Lemahieu et al., 1999). Genetic Heterogeneity of Wiskott-Aldrich Syndrome See Wiskott-Aldrich syndrome-2 (WAS2; 614493), caused by mutation in the WIPF1 gene (602357). Also see 600903 for a possible autosomal dominant form of the disorder.  http://www.omim.org/entry/301000
From MedlinePlus Genetics
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), 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, bloody diarrhea, or episodes of prolonged bleeding following nose bleeds or minor trauma. Microthrombocytopenia can also lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura, or variably sized rashes made up of tiny red spots called petechiae. In some cases, particularly if a bleeding episode occurs within the brain, prolonged bleeding can be life-threatening.

Wiskott-Aldrich syndrome is also characterized by abnormal or nonfunctional immune system cells known as white blood cells. Changes in white blood cells lead to an increased risk of several immune and inflammatory disorders in people with Wiskott-Aldrich syndrome. These immune problems vary in severity and include an increased susceptibility to infection from bacteria, viruses, and fungi. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, such as rheumatoid arthritis, vasculitis, or hemolytic anemia. These disorder occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing certain types of cancer, such as cancer of the immune system cells (lymphoma), is also increased in people with Wiskott-Aldrich syndrome.

Wiskott-Aldrich syndrome is often considered to be part of a disease spectrum with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping signs and symptoms and the same genetic cause.  https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome

Clinical features

From HPO
Lymphoproliferative disorder
MedGen UID:
6162
Concept ID:
C0024314
Neoplastic Process
A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).
Kidney disorder
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Small vessel vasculitis
MedGen UID:
868710
Concept ID:
C4023113
Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.
Large vessel vasculitis
MedGen UID:
870761
Concept ID:
C4025218
Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.
Ulcerative colitis
MedGen UID:
3532
Concept ID:
C0009324
Disease or Syndrome
A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hematemesis
MedGen UID:
6770
Concept ID:
C0018926
Sign or Symptom
The vomiting of blood.
Melena
MedGen UID:
7523
Concept ID:
C0025222
Pathologic Function
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., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Inflammation of the large intestine
MedGen UID:
662273
Concept ID:
C0578878
Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Pathologic Function
Hemorrhage affecting the gingiva.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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.
Decreased mean platelet volume
MedGen UID:
853132
Concept ID:
C1096368
Finding
Average platelet volume below the lower limit of the normal reference interval.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
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 pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Autoimmune hemolytic anemia
MedGen UID:
1918
Concept ID:
C0002880
Disease or Syndrome
An autoimmune form of hemolytic anemia.
Eczematoid dermatitis
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Systemic inflammatory response to infection.
Increased circulating IgE concentration
MedGen UID:
116018
Concept ID:
C0236175
Finding
An abnormally increased overall level of immunoglobulin E in blood.
Increased circulating IgA concentration
MedGen UID:
66800
Concept ID:
C0239984
Finding
An abnormally increased level of immunoglobulin A in blood.
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Recurrent meningitis
MedGen UID:
152879
Concept ID:
C0746495
Disease or Syndrome
An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
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
Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.
Decreased proportion of CD8-positive T cells
MedGen UID:
374188
Concept ID:
C1839305
Finding
A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.
Reduced natural killer cell activity
MedGen UID:
333452
Concept ID:
C1839969
Finding
Reduced ability of the natural killer cell to function in the adaptive immune response.
Decreased specific anti-polysaccharide antibody level
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.
Recurrent herpes
MedGen UID:
870750
Concept ID:
C4025207
Finding
Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.
Impaired lymphocyte transformation with phytohemagglutinin
MedGen UID:
871152
Concept ID:
C4025625
Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
Decreased proportion of CD4-positive helper T cells
MedGen UID:
1719772
Concept ID:
C5235140
Finding
A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
Oral bleeding
MedGen UID:
10459
Concept ID:
C0029163
Pathologic Function
Bleeding originating from the mouth.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
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.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin

Term Hierarchy

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

Professional guidelines

PubMed

Cavannaugh C, Ochs HD, Buchbinder D
Expert Rev Clin Immunol 2022 Jun;18(6):609-623. Epub 2022 May 19 doi: 10.1080/1744666X.2022.2074400. PMID: 35533396
Booth C, Romano R, Roncarolo MG, Thrasher AJ
Hum Mol Genet 2019 Oct 1;28(R1):R15-R23. doi: 10.1093/hmg/ddz170. PMID: 31297531
Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N
Biol Blood Marrow Transplant 2009 Jan;15(1 Suppl):84-90. doi: 10.1016/j.bbmt.2008.10.007. PMID: 19147084

Recent clinical studies

Etiology

Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. PMID: 35100336
Rivers E, Worth A, Thrasher AJ, Burns SO
Br J Haematol 2019 May;185(4):647-655. Epub 2019 Mar 12 doi: 10.1111/bjh.15831. PMID: 30864154Free PMC Article
Al-Shaikhly T, Ochs HD
Immunol Cell Biol 2019 Apr;97(4):368-379. Epub 2018 Nov 19 doi: 10.1111/imcb.12209. PMID: 30264496
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198
Notarangelo LD, Miao CH, Ochs HD
Curr Opin Hematol 2008 Jan;15(1):30-6. doi: 10.1097/MOH.0b013e3282f30448. PMID: 18043243

Diagnosis

Pelling D, Bain BJ
Am J Hematol 2024 May;99(5):969-970. Epub 2023 Dec 15 doi: 10.1002/ajh.27183. PMID: 38100131
Rivers E, Worth A, Thrasher AJ, Burns SO
Br J Haematol 2019 May;185(4):647-655. Epub 2019 Mar 12 doi: 10.1111/bjh.15831. PMID: 30864154Free PMC Article
Al-Shaikhly T, Ochs HD
Immunol Cell Biol 2019 Apr;97(4):368-379. Epub 2018 Nov 19 doi: 10.1111/imcb.12209. PMID: 30264496
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198
Massaad MJ, Ramesh N, Geha RS
Ann N Y Acad Sci 2013 May;1285:26-43. Epub 2013 Mar 25 doi: 10.1111/nyas.12049. PMID: 23527602

Therapy

Labrosse R, Chu JI, Armant MA, Everett JK, Pellin D, Kareddy N, Frelinger AL, Henderson LA, O'Connell AE, Biswas A, Coenen-van der Spek J, Miggelbrink A, Fiorini C, Adhikari H, Berry CC, Cantu VA, Fong J, Jaroslavsky J, Karadeniz DF, Li QZ, Reddy S, Roche AM, Zhu C, Whangbo JS, Dansereau C, Mackinnon B, Morris E, Koo SM, London WB, Baris S, Ozen A, Karakoc-Aydiner E, Despotovic JM, Forbes Satter LR, Saitoh A, Aizawa Y, King A, Nguyen MAT, Vu VDU, Snapper SB, Galy A, Notarangelo LD, Bushman FD, Williams DA, Pai SY
Blood 2023 Oct 12;142(15):1281-1296. doi: 10.1182/blood.2022019117. PMID: 37478401Free PMC Article
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. PMID: 35100336
Fischer A, Hacein-Bey-Abina S
J Exp Med 2020 Jan 6;217(2) doi: 10.1084/jem.20190607. PMID: 31826240Free PMC Article
Booth C, Romano R, Roncarolo MG, Thrasher AJ
Hum Mol Genet 2019 Oct 1;28(R1):R15-R23. doi: 10.1093/hmg/ddz170. PMID: 31297531
Bosticardo M, Ferrua F, Cavazzana M, Aiuti A
Curr Gene Ther 2014;14(6):413-21. doi: 10.2174/1566523214666140918103731. PMID: 25245089

Prognosis

Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
Guerrero Espejo A, Tomás Dols S, Gestal MC
Rev Clin Esp (Barc) 2023 May;223(5):262-269. Epub 2023 Mar 25 doi: 10.1016/j.rceng.2023.03.004. PMID: 36972730
Luo J, Peng J, Zhao PQ, Fei P
Ocul Immunol Inflamm 2023 Jan;31(1):134-141. Epub 2021 Dec 8 doi: 10.1080/09273948.2021.1995762. PMID: 34878956
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. PMID: 35100336
Agarwal N, Citla Sridhar D, Malay S, Patil N, Shekar A, Ahuja S, Dalal J
Sci Rep 2021 Feb 25;11(1):4654. doi: 10.1038/s41598-021-84328-0. PMID: 33633315Free PMC Article

Clinical prediction guides

Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
Pille M, Avila J, Sanchez GS, Goetgeluk G, De Munter S, Jansen H, Billiet L, Weening K, Xue H, Bonte S, Ingels J, De Cock L, Pascal E, Deseins L, Kerre T, Taghon T, Leclercq G, Vermijlen D, Davis B, Vandekerckhove B
Front Immunol 2023;14:1188099. Epub 2023 Jun 7 doi: 10.3389/fimmu.2023.1188099. PMID: 37350958Free PMC Article
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. PMID: 35100336
Cinicola BL, Corrente S, Castagnoli R, Lougaris V, Giardino G, Leonardi L, Volpi S, La Torre F, Federici S, Soresina A, Cancrini C, Marseglia GL, Cardinale F; Immunology Task Force of the Italian Society of Pediatric Allergy, Immunology (SIAIP)
Pediatr Allergy Immunol 2022 Jan;33 Suppl 27(Suppl 27):65-68. doi: 10.1111/pai.13633. PMID: 35080318Free PMC Article
Fischer A, Hacein-Bey-Abina S
J Exp Med 2020 Jan 6;217(2) doi: 10.1084/jem.20190607. PMID: 31826240Free PMC Article

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