Wiskott-Aldrich syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Chandrakala Yannam, MD [2]; Syed Hassan A. Kazmi BSc, MD [3]; Cafer Zorkun, M.D., Ph.D. [4]

Synonyms and keywords: Aldrich syndrome

Overview

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet counts), immune deficiency, and bloody diarrhea (due to the low platelet counts). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954.[1] The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present similar but less severe symptoms and are caused by mutations of the same gene.

Historical Perspective

The syndrome is named after Dr Robert Anderson Aldrich, an American pediatrician who described the disease in a family of Dutch-Americans in 1954, and Dr Alfred Wiskott, a German pediatrician who first noticed the syndrome in 1937.[2] Wiskott described three brothers with a similar disease, whose sisters were unaffected. In 2006 a German research group analysed family members of Wiskott's three cases, and surmised that they probably shared a novel frameshift mutation of the first exon of the WAS gene.[3]

Classification

Jin et al (2004) employ a numerical grading of severity:[4]

Pathophysiology

In the Wiskott–Aldrich syndrome, the platelets are small and do not function properly. They are removed by the spleen, which leads to low platelet counts.

Wiskott–Aldrich syndrome was linked in 1994 to mutations in a gene on the short arm of the X chromosome, which was termed Wiskott-Aldrich syndrome protein (WASp). It was later discovered that the disease X-linked thrombocytopenia (XLT) was also due to WASp mutations, but different ones from those that cause full-blown Wiskott–Aldrich syndrome. Furthermore, the rare disorder X-linked neutropenia has been linked to particular mutations of the WASp gene.

The WASp gene codes for the protein by the same name, which is 502 amino acids long and is mainly expressed in hematopoietic cells (the cells in the bone marrow that develop into blood cells). The main function of WASp is to activate actin polymerization by binding to the Arp2/3 complex. In T-cell, WASp is important because it is known to be activated via T-cell receptor (TCR) signaling pathways to induce cortical actin cytoskeleton rearrangements that are responsible for forming the immunological synapse.

The immune deficiency is caused by decreased antibody production, and an inability for T cells to become polarized [5] (making it a combined immunodeficiency). This leads to increased susceptibility to infections, particularly of the ears and sinuses. T cells are unable to reorganize their actin cytoskeleton. The type of mutation to the WASp gene correlates significantly with the degree of severity: those that led to the production of a truncated protein caused significantly more symptoms than those with a missense mutation but a normal-length WASp. Although autoimmune disease and malignancy occur in both types of mutation, those patients with truncated WASp carry a higher risk.

A defect in CD43 molecule has been found to be associated in patients with Wiskott–Aldrich syndrome.[6]

Causes

In Wiskott–Aldrich syndrome, the platelets are small and do not function properly. They are removed by the spleen, which leads to low platelet counts.

Wiskott–Aldrich syndrome was linked in 1994 to mutations in a gene on the short arm of the X chromosome, which was termed Wiskott-Aldrich syndrome protein (WASp). It was later discovered that the disease X-linked thrombocytopenia (XLT) was also due to WASp mutations, but different ones from those that cause full-blown Wiskott–Aldrich syndrome. Furthermore, the rare disorder X-linked neutropenia has been linked to particular mutations of the WASp gene.

The WASp gene codes for the protein by the same name, which is 502 amino acids long and is mainly expressed in hematopoietic cells (the cells in the bone marrow that develop into blood cells). The main function of WASp is to activate actin polymerization by binding to the Arp2/3 complex. In T-cell, WASp is important because it is known to be activated via T-cell receptor (TCR) signaling pathways to induce cortical actin cytoskeleton rearrangements that are responsible for forming the immunological synapse.

The immune deficiency is caused by decreased antibody production, and an inability for T cells to become polarized [5] (making it a combined immunodeficiency). This leads to increased susceptibility to infections, particularly of the ears and sinuses. T-cells are unable to reorganize their actin cytoskeleton. The type of mutation to the WASp gene correlates significantly with the degree of severity: those that led to the production of a truncated protein caused significantly more symptoms than those with a missense mutation but a normal-length WASp. Although autoimmune disease and malignancy occur in both types of mutation, those patients with truncated WASp carry a higher risk.

A defect in CD43 molecule has been found to be associated in patients with Wiskott–Aldrich syndrome.[6]

Differentiating Wiskott-Aldrich Syndrome From Other Disorders of Humoral Imuunodeficiency

Wiskott-Aldrich Syndrome should be differentiated from other disorders leading to hypogammaglobulinemia and defects of humoral immunity. The following conditions may be considered as differentials:[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][30][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56]

Disorder Defect (Mechanism of Development) Characteristic Features Clinical Presentation Laboratory Findings
X-Linked (Bruton) Agammaglobulinemia
Selective IgA Deficiency
  • Serum IgA < 7 mg/dl
  • Normal IgG and IgM levels
Common Variable Immunodeficiency
  • Defective B cell differentiation
  • May be acquired in 20-30 years of age
Autosomal dominant hype IgE syndrome (Job's Syndrome)
  • Distinctive coarse facies
  • Cold (non-inflammatory) Staphylococcal abscesses
  • Retained primary teeth
  • Eczema
Severe combined immunodeficiency (SCID)
Ataxia Telangiectasia
Hyper IgM Syndrome
Wiskott-Aldrich Syndrome
  • Malignancy: can cause the reduction in the immunoglobulin production.[57]
  • Viral infections: such as Epstein-Barr virus, HIV, cytomegalovirus are other causes of hypogammaglobulinemia..
  • Side effect of certain medications: Some drugs include systemic glucocorticoids, phenytoin, and carbamazepine, have been associated with IgG deficiency.[58]
  • Other causes of primary humoral immunodeficiencies.
  • Smoking: may cause IgG2 subclass deficiency.[59]
  • Protein-losing conditions: enteropathies, nephrotic syndrome, burns, and other traumas may cause abnormal loss of immunoglobulins.


Differentiating Wiskott-Aldrich Syndrome From Other Diseases

  • Wiskott-Aldrich syndrome must be differentiated from other bleeding disorders. Different causes of bleeding disorders can be differentiated based on their clinical manifestation and laboratory findings. These features have discussed in the below table:
Category Sub-category Diseases History Clinical manifestation Laboratory testing Comments
Mucosal bleeding Petechia|Petechiae Ecchymoses Menorrhagia Hematoma Hemarthrosis Platelet count Bleeding time (BT) Prothrombin time (PT) Activated partial thromboplastin time (aPTT) Thrombin time (TT)
Platelet disorders Thrombocytopenia Infection-Induced thrombocytopenia[60][61][62]
  • History of prior infection
 + + + + + + ↓ ↑ Normal Normal Normal -
Medications-Induced thrombocytopenia [63][64] + + + + + + ↓ ↑ Normal Normal Normal Most important par of treatment is discontinuing of the medication.
Heparin-Induced thrombocytopenia[65] + + + + + + ↓ ↑ Normal Normal ↑ For more information click here: Heparin-induced thrombocytopenia.
Immune Thrombocytopenic Purpura (ITP)[66] + + + + + + ↓ ↑ Normal Normal Normal -
Inherited Thrombocytopenia[67][68]
  • Family history
 + + + + + + ↓ ↑ Normal Normal Normal -
Thrombotic Thrombocytopenic Purpura (TTP)[69][70] History of: + + + + + + ↓ ↑ Normal Normal Normal -
Hemolytic Uremic Syndrome[71][72] History of:
  • Infections
 + + + + + + ↓ ↑ Normal Normal Normal -
Thromobcytosis Iron deficiency anemia

Inflammatory diseases

Splenectomy

Essential thrombocytosis

- − − − +/- +/- ↑ Normal/↑ Normal Normal Normal -
Qualitative Disorders of Platelet Function Inherited Disorders of Platelet Function Glanzmann’s thrombasthenia
  • Family history
 + + + + - Rare Normal/↓ ↑ Normal Normal Normal
  • AR inheritance
  • Absence of the platelet Gp IIb/IIIa receptor/
  • Diminished for GP 2B-3A on flow cytometry
Bernard-Soulier syndrome[73][74]
  • Family history
 + + + + - - Normal/↓ ↑ Normal Normal Normal
  • AR inheritance
  • Absence of the platelet Gp Ib-IX-V receptor
  • On PBS: giant platelets
  • Ristocetin - no aggregation
Wiskott-Aldrich syndrome[75][76][77][78]
  • Family history
 + + + + - - Normal/↓ ↑ Normal Normal Normal
  • Anti-WASp antibody can be used to detect presence or absence of WAS protein
  • In Wiskott–Aldrich syndrome, the platelets are small and do not function properly. They are removed by the spleen, which leads to low platelet counts.
Platelet storage pool disorder (SPD):
  • Positive family history
  • Hairy-cell leukemia
  • Cardiovascular bypass
 + + + + - - Normal/↓ ↑ Normal Normal Normal
  • AD inheritance
  • Abnormalities of platelet granule formation
Acquired Disorders of Platelet Function + + + + +/- +/- Normal/↓ ↑ Normal Normal Normal -
Von Willebrand Disease [79][79][80][81][82] + + + + +/- +/- ↑ Normal ↑ ↑ Normal See the table below for the details about types.
Vessel wall disorders Metabolic and Inflammatory Disorders
  • History of the underlying disease.
 - + + +/- - - Normal ↑/Normal Normal Normal Normal -
Inherited Disorders of the Vessel Wall
  • Positive family history
 - + + +/- - - Normal ↑/Normal Normal Normal Normal -
Coagulation factor disorders[83][84][85][85][86][87][88][89][90][91][92] Fibrinogen deficiency[93] Different types of the fibrinogen disorders: - - + + +/- + Normal ↑ ↑ ↑ ↑
  • Impaired fibrin cross linking or clot dissolution.
  • The severity of bleeding in patients with fibrinogen disorders can be mild or severe, with higher bleeding risk in those with afibrinogenemia or lower levels of functional fibrinogen. The age of onset is also variable, with earlier onset in those with more severe deficiency.
Prothrombin deficiency + + + + + Normal Normal ↑ ↑ ↑ -
Factor V deficiency _ + + + + Normal ↑ ↑ ↑ Normal The severity of bleeding is only partly related to the degree of factor V deficiency. Some patients with undetectable plasma levels of factor V experience only relatively mild bleeding.
Factor VII deficiency + + + Normal ↑ Normal Normal Thrombosis occurs in inherited factor VII deficiency most cases are associated with the administration of factor VII replacement therapy
Factor X deficiency
  • Prolonged bleeding following circumcision
 + + + + + Normal Normal ↑ ↑ Normal -
Factor XII deficiency
  • Majority,asymptomatic
  • Recurrent miscarriages
  • Painful leg ulcers
 _ _ _ _ _ Normal Normal Normal ↑ Normal
High molecular weight kininogen (HMWK) deficiency
  • Possibility of positive family history of bleeding
 _ _ _ _ _ Normal Normal Normal ↑ Normal
Prekallikrein deficiency
  • Possibility of positive family history of bleeding
 _ _ _ _ _ Normal Normal Normal ↑ Normal
Factor XIII deficiency Types:
  • Sub unit A mutation disease (more common)
  • Sub unit B mutation disease
  • Possibility of positive family history of bleeding
 -/+ -/+ -/+ -/+ -/+ -/+ Normal Normal Normal/↑ Normal Normal
  • Impaired fibrin cross linking or clot dissolution
  • The severity of factor XIII deficiency bleeds can be different in different patients
Hemophilia[94][95][96][97][98][99] Type A deficiency - - - + + + Normal Normal Normal ↑ Normal -
Type B deficiency - - - + + + Normal Normal Normal ↑ Normal -
Type C deficiency
  • Family history
  • Bleeding after surgery or injury
 - - - + Rare Rare Normal Normal Normal ↑ Normal -
Rare diseases Disseminated Intravascular Coagulation[100] + + + + + + ↓ ↑ ↑ ↑ Normal -
Vitamin K Deficiency[101] + - + + + + Normal ↑ ↑ Normal or mildly prolonged Normal -

Risk Factors

  • Positive family history of Wiskott-Aldrich syndrome, can be consider as a risk factor.

Screening

  • Flow cytometry:
    • Anti-WASp antibody can be used to detect presence or absence of WAS protein. However, flow cytometry may not detect expression of mutated, reduced or poor WASp.[102]
  • Identification of carriers: Known female carriers can be identified by using DNA mutation analysis of WAS gene.
  • Prenatal diagnosis: DNA analysis from chorionic villus sampling can be performed.[103]

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

  • Patients with Wiskott-Aldrich syndrome have

Physical Examination

Laboratory Findings

Electrocardiogram

  • There are no specific electrocardiogram findings associated with Wiskott-Aldrich syndrome.

X-ray

  • There are no specific x-ray findings associated with Wiskott-Aldrich syndrome. However, a chest x-ray may be helpful in the diagnosis of complications, which include pneumonia.

Echocardiography or Ultrasound

CT scan

MRI

  • There are no specific MRI findings associated with Wiskott-Aldrich syndrome.

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

References

  1. ↑ Aldrich RA, Steinberg AG, Campbell DC (1954). "Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea". Pediatrics. 13 (2): 133–9. PMID 13133561.
  2. ↑ Wiskott, A (1937). "Familiärer, angeborener Morbus Werlhofii? ("Familial congenital Werlhof's disease?")". Montsschr Kinderheilkd. 68: 212–16.
  3. ↑ Binder V, Albert MH, Kabus M, Bertone M, Meindl A, Belohradsky BH (2006). "The genotype of the original Wiskott phenotype". N. Engl. J. Med. 355 (17): 1790–3. doi:10.1056/NEJMoa062520. PMID 17065640.
  4. ↑ Jin Y, Mazza C, Christie JR; et al. (2004). "Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation". Blood. 104 (13): 4010–9. doi:10.1182/blood-2003-05-1592. PMID 15284122.
  5. ↑ 5.0 5.1 "Wiskott-Aldrich Syndrome: Immunodeficiency Disorders: Merck Manual Professional". Retrieved 2008-03-01.
  6. ↑ 6.0 6.1 PMID 1683685 (PMID 1683685)
    Citation will be completed automatically in a few minutes. Jump the queue or expand by hand
  7. ↑ Agarwal S, Cunningham-Rundles C (September 2007). "Assessment and clinical interpretation of reduced IgG values". Ann. Allergy Asthma Immunol. 99 (3): 281–3. doi:10.1016/S1081-1206(10)60665-5. PMC 3099256. PMID 17910333.
  8. ↑ Korthäuer U, Graf D, Mages HW, Brière F, Padayachee M, Malcolm S, Ugazio AG, Notarangelo LD, Levinsky RJ, Kroczek RA (February 1993). "Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM". Nature. 361 (6412): 539–41. doi:10.1038/361539a0. PMID 7679206.
  9. ↑ Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD (July 1997). "Clinical spectrum of X-linked hyper-IgM syndrome". J. Pediatr. 131 (1 Pt 1): 47–54. PMID 9255191.
  10. ↑ Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME (November 2003). "The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients". Medicine (Baltimore). 82 (6): 373–84. doi:10.1097/01.md.0000100046.06009.b0. PMID 14663287.
  11. ↑ Subauste CS, Wessendarp M, Sorensen RU, Leiva LE (June 1999). "CD40-CD40 ligand interaction is central to cell-mediated immunity against Toxoplasma gondii: patients with hyper IgM syndrome have a defective type 1 immune response that can be restored by soluble CD40 ligand trimer". J. Immunol. 162 (11): 6690–700. PMID 10352287.
  12. ↑ Hayward AR, Levy J, Facchetti F, Notarangelo L, Ochs HD, Etzioni A, Bonnefoy JY, Cosyns M, Weinberg A (January 1997). "Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM". J. Immunol. 158 (2): 977–83. PMID 8993019.
  13. ↑ Davies EG, Thrasher AJ (April 2010). "Update on the hyper immunoglobulin M syndromes". Br. J. Haematol. 149 (2): 167–80. doi:10.1111/j.1365-2141.2010.08077.x. PMC 2855828. PMID 20180797.
  14. ↑ Yel L (January 2010). "Selective IgA deficiency". J. Clin. Immunol. 30 (1): 10–6. doi:10.1007/s10875-009-9357-x. PMC 2821513. PMID 20101521.
  15. ↑ Suzuki H, Kaneko H, Fukao T, Jin R, Kawamoto N, Asano T, Matsui E, Kasahara K, Kondo N (March 2009). "Various expression patterns of alpha1 and alpha2 genes in IgA deficiency". Allergol Int. 58 (1): 111–7. doi:10.2332/allergolint.O-08-549. PMID 19153537.
  16. ↑ Cunningham-Rundles C (September 2001). "Physiology of IgA and IgA deficiency". J. Clin. Immunol. 21 (5): 303–9. PMID 11720003.
  17. ↑ Edwards E, Razvi S, Cunningham-Rundles C (April 2004). "IgA deficiency: clinical correlates and responses to pneumococcal vaccine". Clin. Immunol. 111 (1): 93–7. doi:10.1016/j.clim.2003.12.005. PMID 15093556.
  18. ↑ Chipps BE, Talamo RC, Winkelstein JA (April 1978). "IgA deficiency, recurrent pneumonias, and bronchiectasis". Chest. 73 (4): 519–26. PMID 305332.
  19. ↑ Zinneman HH, Kaplan AP (September 1972). "The association of giardiasis with reduced intestinal secretory immunoglobulin A". Am J Dig Dis. 17 (9): 793–7. PMID 5056860.
  20. ↑ Aghamohammadi A, Cheraghi T, Gharagozlou M, Movahedi M, Rezaei N, Yeganeh M, Parvaneh N, Abolhassani H, Pourpak Z, Moin M (January 2009). "IgA deficiency: correlation between clinical and immunological phenotypes". J. Clin. Immunol. 29 (1): 130–6. doi:10.1007/s10875-008-9229-9. PMID 18683032.
  21. ↑ Janzi M, Kull I, Sjöberg R, Wan J, Melén E, Bayat N, Ostblom E, Pan-Hammarström Q, Nilsson P, Hammarström L (October 2009). "Selective IgA deficiency in early life: association to infections and allergic diseases during childhood". Clin. Immunol. 133 (1): 78–85. doi:10.1016/j.clim.2009.05.014. PMID 19541543.
  22. ↑ Jacob CM, Pastorino AC, Fahl K, Carneiro-Sampaio M, Monteiro RC (May 2008). "Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper". J. Clin. Immunol. 28 Suppl 1: S56–61. doi:10.1007/s10875-007-9163-2. PMID 18202833.
  23. ↑ Conley ME, Notarangelo LD, Etzioni A (December 1999). "Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)". Clin. Immunol. 93 (3): 190–7. doi:10.1006/clim.1999.4799. PMID 10600329.
  24. ↑ Mayer RJ, Schiffer CA, Peterson BA, Silver RT, Cornwell GG, McIntyre OR, Rai KR, Budman DR, Ellison RR, Maguire M (June 1985). "Intensive postremission therapy in adults with acute nonlymphocytic leukemia with ara-C by continuous infusion or bolus administration: preliminary results of a CALGB phase I study". Semin. Oncol. 12 (2 Suppl 3): 84–90. PMID 4012343.
  25. ↑ Massaad MJ, Ramesh N, Geha RS (May 2013). "Wiskott-Aldrich syndrome: a comprehensive review". Ann. N. Y. Acad. Sci. 1285: 26–43. doi:10.1111/nyas.12049. PMID 23527602.
  26. ↑ Candotti F (January 2018). "Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome". J. Clin. Immunol. 38 (1): 13–27. doi:10.1007/s10875-017-0453-z. PMID 29086100.
  27. ↑ Sereni L, Castiello MC, Villa A (March 2018). "Platelets in Wiskott-Aldrich syndrome: Victims or executioners?". J. Leukoc. Biol. 103 (3): 577–590. doi:10.1189/jlb.5MR0617-257R. PMID 28851742.
  28. ↑ Blundell MP, Worth A, Bouma G, Thrasher AJ (2010). "The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function". Dis. Markers. 29 (3–4): 157–75. doi:10.3233/DMA-2010-0735. PMC 3835520. PMID 21178275.
  29. ↑ Bosticardo M, Marangoni F, Aiuti A, Villa A, Grazia Roncarolo M (June 2009). "Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome". Blood. 113 (25): 6288–95. doi:10.1182/blood-2008-12-115253. PMID 19351959.
  30. ↑ 30.0 30.1 Fischer A (November 2000). "Severe combined immunodeficiencies (SCID)". Clin. Exp. Immunol. 122 (2): 143–9. PMC 1905779. PMID 11091267.
  31. ↑ Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ (April 1993). "Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans". Cell. 73 (1): 147–57. PMID 8462096.
  32. ↑ Puck JM (November 1996). "IL2RGbase: a database of gamma c-chain defects causing human X-SCID". Immunol. Today. 17 (11): 507–11. PMID 8961626.
  33. ↑ Rowiński J, Souchier C, Czyba JC (1978). "DNA content of cells in human buccal smears. A preliminary study". Acta Histochem. 62 (2): 276–81. doi:10.1016/S0065-1281(78)80093-2. PMID 104530.
  34. ↑ Morgan G, Levinsky RJ, Hugh-Jones K, Fairbanks LD, Morris GS, Simmonds HA (December 1987). "Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency". Clin. Exp. Immunol. 70 (3): 491–9. PMC 1542189. PMID 3436096.
  35. ↑ Ballard RW, Cummings CW (August 1980). "Job's syndrome". Laryngoscope. 90 (8 Pt 1): 1367–70. PMID 7401839.
  36. ↑ Freeman AF, Holland SM (May 2008). "The hyper-IgE syndromes". Immunol Allergy Clin North Am. 28 (2): 277–91, viii. doi:10.1016/j.iac.2008.01.005. PMC 2683262. PMID 18424333.
  37. ↑ Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B (October 2007). "STAT3 mutations in the hyper-IgE syndrome". N. Engl. J. Med. 357 (16): 1608–19. doi:10.1056/NEJMoa073687. PMID 17881745.
  38. ↑ Ling JC, Freeman AF, Gharib AM, Arai AE, Lederman RJ, Rosing DR, Holland SM (March 2007). "Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome". Clin. Immunol. 122 (3): 255–8. doi:10.1016/j.clim.2006.10.005. PMID 17098478.
  39. ↑ Hutto JO, Bryan CS, Greene FL, White CJ, Gallin JI (March 1988). "Cryptococcosis of the colon resembling Crohn's disease in a patient with the hyperimmunoglobulinemia E-recurrent infection (Job's) syndrome". Gastroenterology. 94 (3): 808–12. PMID 3338649.
  40. ↑ O'Connell AC, Puck JM, Grimbacher B, Facchetti F, Majorana A, Gallin JI, Malech HL, Holland SM (February 2000). "Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome". Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 89 (2): 177–85. doi:10.1067/moe.2000.103129. PMID 10673653.
  41. ↑ Tam JS, Routes JM (2013). "Common variable immunodeficiency". Am J Rhinol Allergy. 27 (4): 260–5. doi:10.2500/ajra.2013.27.3899. PMC 3901442. PMID 23883805.
  42. ↑ Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C (February 2012). "Morbidity and mortality in common variable immune deficiency over 4 decades". Blood. 119 (7): 1650–7. doi:10.1182/blood-2011-09-377945. PMC 3286343. PMID 22180439.
  43. ↑ Oksenhendler E, Gérard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R, Viallard JF, Gardembas M, Galicier L, Schleinitz N, Suarez F, Soulas-Sprauel P, Hachulla E, Jaccard A, Gardeur A, Théodorou I, Rabian C, Debré P (May 2008). "Infections in 252 patients with common variable immunodeficiency". Clin. Infect. Dis. 46 (10): 1547–54. doi:10.1086/587669. PMID 18419489.
  44. ↑ Roifman CM, Rao CP, Lederman HM, Lavi S, Quinn P, Gelfand EW (April 1986). "Increased susceptibility to Mycoplasma infection in patients with hypogammaglobulinemia". Am. J. Med. 80 (4): 590–4. PMID 3963038.
  45. ↑ Yong PF, Thaventhiran JE, Grimbacher B (2011). ""A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?". Adv. Immunol. 111: 47–107. doi:10.1016/B978-0-12-385991-4.00002-7. PMID 21970952.
  46. ↑ Salzer U, Chapel HM, Webster AD, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schäffer AA, Hammarström L, Grimbacher B (August 2005). "Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans". Nat. Genet. 37 (8): 820–8. doi:10.1038/ng1600. PMID 16007087.
  47. ↑ Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C, Claudio P, Franco D, Maria Pesce A, Borghese F, Guerra A, Rondelli R, Plebani A (May 2007). "Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency". J. Clin. Immunol. 27 (3): 308–16. doi:10.1007/s10875-007-9075-1. PMID 17510807.
  48. ↑ Nissenkorn A, Ben-Zeev B (2015). "Ataxia telangiectasia". Handb Clin Neurol. 132: 199–214. doi:10.1016/B978-0-444-62702-5.00014-7. PMID 26564081.
  49. ↑ Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM (November 2016). "Ataxia telangiectasia: a review". Orphanet J Rare Dis. 11 (1): 159. doi:10.1186/s13023-016-0543-7. PMC 5123280. PMID 27884168.
  50. ↑ Crawford TO (December 1998). "Ataxia telangiectasia". Semin Pediatr Neurol. 5 (4): 287–94. PMID 9874856.
  51. ↑ Boder E (1985). "Ataxia-telangiectasia: an overview". Kroc Found Ser. 19: 1–63. PMID 2415689.
  52. ↑ Hoche F, Seidel K, Theis M, Vlaho S, Schubert R, Zielen S, Kieslich M (June 2012). "Neurodegeneration in ataxia telangiectasia: what is new? What is evident?". Neuropediatrics. 43 (3): 119–29. doi:10.1055/s-0032-1313915. PMID 22614068.
  53. ↑ BODER E, SEDGWICK RP (April 1958). "Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection". Pediatrics. 21 (4): 526–54. PMID 13542097.
  54. ↑ Sahama I, Sinclair K, Pannek K, Lavin M, Rose S (August 2014). "Radiological imaging in ataxia telangiectasia: a review". Cerebellum. 13 (4): 521–30. doi:10.1007/s12311-014-0557-4. PMID 24683014.
  55. ↑ Lin DD, Barker PB, Lederman HM, Crawford TO (January 2014). "Cerebral abnormalities in adults with ataxia-telangiectasia". AJNR Am J Neuroradiol. 35 (1): 119–23. doi:10.3174/ajnr.A3646. PMC 4106125. PMID 23886747.
  56. ↑ Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM (April 2004). "Immunodeficiency and infections in ataxia-telangiectasia". J. Pediatr. 144 (4): 505–11. doi:10.1016/j.jpeds.2003.12.046. PMID 15069401.
  57. ↑ T. Zenone, P. J. Souquet, C. Cunningham-Rundles & J. P. Bernard (1996). "Hodgkin's disease associated with IgA and IgG subclass deficiency". Journal of internal medicine. 240 (2): 99–102. PMID 8810936. Unknown parameter |month= ignored (help)
  58. ↑ W. B. Klaustermeyer, M. E. Gianos, M. L. Kurohara, H. T. Dao & D. C. Heiner (1992). "IgG subclass deficiency associated with corticosteroids in obstructive lung disease". Chest. 102 (4): 1137–1142. PMID 1343817. Unknown parameter |month= ignored (help)
  59. ↑ I. Qvarfordt, G. C. Riise, B. A. Andersson & S. Larsson (2001). "IgG subclasses in smokers with chronic bronchitis and recurrent exacerbations". Thorax. 56 (6): 445–449. PMID 11359959. Unknown parameter |month= ignored (help)
  60. ↑ Neunert C, Lim W, Crowther M, Cohen A, Solberg L, Crowther MA (April 2011). "The American Society of Hematology 2011 evidence-based practice guideline for immune thrombocytopenia". Blood. 117 (16): 4190–207. doi:10.1182/blood-2010-08-302984. PMID 21325604.
  61. ↑ Karimi O, Goorhuis A, Schinkel J, Codrington J, Vreden S, Vermaat JS, Stijnis C, Grobusch MP (March 2016). "Thrombocytopenia and subcutaneous bleedings in a patient with Zika virus infection". Lancet. 387 (10022): 939–940. doi:10.1016/S0140-6736(16)00502-X. PMID 26906627. Vancouver style error: initials (help)
  62. ↑ Zammarchi L, Stella G, Mantella A, Bartolozzi D, Tappe D, Günther S, Oestereich L, Cadar D, Muñoz-Fontela C, Bartoloni A, Schmidt-Chanasit J (February 2015). "Zika virus infections imported to Italy: clinical, immunological and virological findings, and public health implications". J. Clin. Virol. 63: 32–5. doi:10.1016/j.jcv.2014.12.005. PMID 25600600.
  63. ↑ Kam T, Alexander M (October 2014). "Drug-induced immune thrombocytopenia". J Pharm Pract. 27 (5): 430–9. doi:10.1177/0897190014546099. PMID 25134884.
  64. ↑ Seco-Melantuche R, Delgado-Sánchez O, Álvarez-Arroyo L (2013). "[Incidence of drug-induced thrombocytopenia in hospitalized patients]". Farm Hosp (in Spanish; Castilian). 37 (1): 27–34. doi:10.7399/FH.2013.37.1.42. PMID 23461497.
  65. ↑ Warkentin TE, Safyan EL, Linkins LA (January 2015). "Heparin-induced thrombocytopenia presenting as bilateral adrenal hemorrhages". N. Engl. J. Med. 372 (5): 492–4. doi:10.1056/NEJMc1414161. PMID 25629757.
  66. ↑ Wright JF, Blanchette VS, Wang H, Arya N, Petric M, Semple JW, Chia WK, Freedman J (October 1996). "Characterization of platelet-reactive antibodies in children with varicella-associated acute immune thrombocytopenic purpura (ITP)". Br. J. Haematol. 95 (1): 145–52. PMID 8857953.
  67. ↑ Johnson B, Fletcher SJ, Morgan NV (September 2016). "Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan". Platelets. 27 (6): 519–25. doi:10.3109/09537104.2016.1148806. PMC 5000870. PMID 27025194.
  68. ↑ Wang Q, Cao L, Sheng G, Shen H, Ling J, Xie J, Ma Z, Yin J, Wang Z, Yu Z, Chen S, Zhao Y, Ruan C, Xia L, Jiang M (August 2018). "Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia". Clin. Appl. Thromb. Hemost.: 1076029618790696. doi:10.1177/1076029618790696. PMID 30103613.
  69. ↑ Knöbl P (2018). "Thrombotic thrombocytopenic purpura". Memo. 11 (3): 220–226. doi:10.1007/s12254-018-0429-6. PMID 30220931.
  70. ↑ Mannucci PM, Cugno M (November 2015). "The complex differential diagnosis between thrombotic thrombocytopenic purpura and the atypical hemolytic uremic syndrome: Laboratory weapons and their impact on treatment choice and monitoring". Thromb. Res. 136 (5): 851–4. doi:10.1016/j.thromres.2015.09.007. PMID 26386489.
  71. ↑ Webster K, Schnitzler E (2014). "Hemolytic uremic syndrome". Handb Clin Neurol. 120: 1113–23. doi:10.1016/B978-0-7020-4087-0.00075-9. PMID 24365375.
  72. ↑ Picard C, Burtey S, Bornet C, Curti C, Montana M, Vanelle P (June 2015). "Pathophysiology and treatment of typical and atypical hemolytic uremic syndrome". Pathol. Biol. 63 (3): 136–43. doi:10.1016/j.patbio.2015.03.001. PMID 25845294.
  73. ↑ Dupuis A, Gachet C (September 2018). "Inherited platelet disorders : Management of the bleeding risk". Transfus Clin Biol. 25 (3): 228–235. doi:10.1016/j.tracli.2018.07.003. PMID 30077511.
  74. ↑ Andres O, Henning K, Strauß G, Pflug A, Manukjan G, Schulze H (June 2018). "Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach". Platelets. 29 (4): 347–356. doi:10.1080/09537104.2017.1386297. PMID 29227167.
  75. ↑ Wang YQ, Cui YX, Feng J (January 2013). "[Clinical phenotype and gene diagnostic analysis of Omenn syndrome]". Zhonghua Er Ke Za Zhi (in Chinese). 51 (1): 64–8. PMID 23527934.
  76. ↑ Patil RB, Shanmukhaiah C, Jijina F, Bamborde S, Wasekar N, Toshniwal M, Mohite A, Patil V (2016). "Wiskott-Aldrich Syndrome Presenting with JMML-Like Blood Picture and Normal Sized Platelets". Case Rep Hematol. 2016: 8230786. doi:10.1155/2016/8230786. PMC 4906177. PMID 27340577.
  77. ↑ Kaneko R, Yamamoto S, Okamoto N, Akiyama K, Matsuno R, Toyama D, Hoshino A, Imai K, Isoyama K (2018). "Wiskott-Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection". SAGE Open Med Case Rep. 6: 2050313X17753788. doi:10.1177/2050313X17753788. PMC 5768273. PMID 29348920.
  78. ↑ Ozcan E, Notarangelo LD, Geha RS (December 2008). "Primary immune deficiencies with aberrant IgE production". J. Allergy Clin. Immunol. 122 (6): 1054–62, quiz 1063–4. doi:10.1016/j.jaci.2008.10.023. PMID 19084106.
  79. ↑ 79.0 79.1 Elbatarny M, Mollah S, Grabell J, Bae S, Deforest M, Tuttle A, Hopman W, Clark DS, Mauer AC, Bowman M, Riddel J, Christopherson PA, Montgomery RR, Rand ML, Coller B, James PD (November 2014). "Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project". Haemophilia. 20 (6): 831–5. doi:10.1111/hae.12503. PMC 4251588. PMID 25196510.
  80. ↑ Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, Hallden C, Guilliatt A, Lester W, Peake I (January 2007). "Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)". Blood. 109 (1): 112–21. doi:10.1182/blood-2006-05-020784. PMID 16985174.
  81. ↑ Mammen EF, Comp PC, Gosselin R, Greenberg C, Hoots WK, Kessler CM, Larkin EC, Liles D, Nugent DJ (1998). "PFA-100 system: a new method for assessment of platelet dysfunction". Semin. Thromb. Hemost. 24 (2): 195–202. doi:10.1055/s-2007-995840. PMID 9579642.
  82. ↑ Bodó I, Eikenboom J, Montgomery R, Patzke J, Schneppenheim R, Di Paola J (July 2015). "Platelet-dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH". J. Thromb. Haemost. 13 (7): 1345–50. doi:10.1111/jth.12964. PMC 5576173. PMID 25858564.
  83. ↑ Karimi M, Peyvandi F, Naderi M, Shapiro A (February 2018). "Factor XIII deficiency diagnosis: Challenges and tools". Int J Lab Hematol. 40 (1): 3–11. doi:10.1111/ijlh.12756. PMID 29027765.
  84. ↑ Peyvandi F, Garagiola I, Biguzzi E (November 2016). "Advances in the treatment of bleeding disorders". J. Thromb. Haemost. 14 (11): 2095–2106. doi:10.1111/jth.13491. PMID 27590165.
  85. ↑ 85.0 85.1 Bender L, Weidmann H, Rose-John S, Renné T, Long AT (2017). "Factor XII-Driven Inflammatory Reactions with Implications for Anaphylaxis". Front Immunol. 8: 1115. doi:10.3389/fimmu.2017.01115. PMC 5605561. PMID 28966616.
  86. ↑ Schmaier AH (September 2016). "Antithrombotic potential of the contact activation pathway". Curr. Opin. Hematol. 23 (5): 445–52. doi:10.1097/MOH.0000000000000271. PMC 5148823. PMID 27380557.
  87. ↑ Schmaier AH (January 2016). "The contact activation and kallikrein/kinin systems: pathophysiologic and physiologic activities". J. Thromb. Haemost. 14 (1): 28–39. doi:10.1111/jth.13194. PMID 26565070.
  88. ↑ Kaplan AP, Ghebrehiwet B (August 2010). "The plasma bradykinin-forming pathways and its interrelationships with complement". Mol. Immunol. 47 (13): 2161–9. doi:10.1016/j.molimm.2010.05.010. PMID 20580091.
  89. ↑ Zuraw BL, Christiansen SC (2011). "Pathophysiology of hereditary angioedema". Am J Rhinol Allergy. 25 (6): 373–8. doi:10.2500/ajra.2011.25.3661. PMID 22185738.
  90. ↑ Quail MT (2013). "Prekallikrein deficiency". J Pediatr Oncol Nurs. 30 (4): 198–204. doi:10.1177/1043454213487436. PMID 23629422.
  91. ↑ Dorgalaleh A, Alavi SE, Tabibian S, Soori S, Moradi E, Bamedi T, Asadi M, Jalalvand M, Shamsizadeh M (May 2017). "Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran". Hematology. 22 (4): 224–230. doi:10.1080/10245332.2016.1263007. PMID 27894217.
  92. ↑ Maas C, Renné T (April 2018). "Coagulation factor XII in thrombosis and inflammation". Blood. 131 (17): 1903–1909. doi:10.1182/blood-2017-04-569111. PMID 29483100.
  93. ↑ Tiscia GL, Margaglione M (May 2018). "Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders". Int J Mol Sci. 19 (6). doi:10.3390/ijms19061597. PMC 6032319. PMID 29844251.
  94. ↑ Aviña-Zubieta JA, Galindo-Rodriguez G, Lavalle C (January 1998). "Rheumatic manifestations of hematologic disorders". Curr Opin Rheumatol. 10 (1): 86–90. PMID 9448995.
  95. ↑ Plug I, Mauser-Bunschoten EP, Bröcker-Vriends AH, van Amstel HK, van der Bom JG, van Diemen-Homan JE, Willemse J, Rosendaal FR (July 2006). "Bleeding in carriers of hemophilia". Blood. 108 (1): 52–6. doi:10.1182/blood-2005-09-3879. PMID 16551972.
  96. ↑ Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A (November 2014). "Definitions in hemophilia: communication from the SSC of the ISTH". J. Thromb. Haemost. 12 (11): 1935–9. doi:10.1111/jth.12672. PMID 25059285.
  97. ↑ White GC, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J (March 2001). "Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis". Thromb. Haemost. 85 (3): 560. PMID 11307831.
  98. ↑ Favaloro EJ, Meijer P, Jennings I, Sioufi J, Bonar RA, Kitchen DP, Kershaw G, Lippi G (October 2013). "Problems and solutions in laboratory testing for hemophilia". Semin. Thromb. Hemost. 39 (7): 816–33. doi:10.1055/s-0033-1356573. PMID 24026910.
  99. ↑ Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A (November 2014). "Definitions in hemophilia: communication from the SSC of the ISTH". J. Thromb. Haemost. 12 (11): 1935–9. doi:10.1111/jth.12672. PMID 25059285.
  100. ↑ Wada H, Matsumoto T, Suzuki K, Imai H, Katayama N, Iba T, Matsumoto M (2018). "Differences and similarities between disseminated intravascular coagulation and thrombotic microangiopathy". Thromb J. 16: 14. doi:10.1186/s12959-018-0168-2. PMC 6040080. PMID 30008620.
  101. ↑ Shiraishi E, Iijima H, Shinzaki S, Nakajima S, Inoue T, Hiyama S, Kawai S, Araki M, Yamaguchi T, Hayashi Y, Fujii H, Nishida T, Tsujii M, Takehara T (April 2016). "Vitamin K deficiency leads to exacerbation of murine dextran sulfate sodium-induced colitis". J. Gastroenterol. 51 (4): 346–56. doi:10.1007/s00535-015-1112-x. PMID 26314836.
  102. ↑ Chiang S, Vergamini SM, Husami A, Neumeier L, Quinn K, Ellerhorst T, Sheppard L, Gifford C, Buchbinder D, Joshi A, Ifversen M, Kleiner GI, Bussel JB, Chandrakasan S, Pesek RD, Pozos TC, Rose MJ, Scurlock AM, Zhang K, Bryceson YT, Bleesing J, Marsh RA (July 2018). "Screening for Wiskott-Aldrich syndrome by flow cytometry". J. Allergy Clin. Immunol. 142 (1): 333–335.e8. doi:10.1016/j.jaci.2018.04.017. PMID 29729304. Vancouver style error: initials (help)
  103. ↑ 103.0 103.1 Giliani S, Fiorini M, Mella P, Candotti F, Schumacher RF, Wengler GS, Lalatta F, Fasth A, Badolato R, Ugazio AG, Albertini A, Notarangelo LD (January 1999). "Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis". Prenat. Diagn. 19 (1): 36–40. PMID 10073904.
  104. ↑ 104.0 104.1 Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA (December 1994). "A multiinstitutional survey of the Wiskott-Aldrich syndrome". J. Pediatr. 125 (6 Pt 1): 876–85. PMID 7996359.
  105. ↑ WEINTRAUB HD, WILSON WJ (August 1964). "PNEUMOCYSTIS CARINII PNEUMONIA IN WISKOTT-ALDRICH SYNDROME". Am. J. Dis. Child. 108: 198–200. PMID 14159941.
  106. ↑ Blancas-Galicia L, Escamilla-Quiroz C, Yamazaki-Nakashimada MA (2011). "[Wiskott-Aldrich Syndrome: An updated review]". Rev Alerg Mex (in Spanish; Castilian). 58 (4): 213–8. PMID 24007832.
  107. ↑ 107.0 107.1 Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S (January 2004). "Clinical course of patients with WASP gene mutations". Blood. 103 (2): 456–64. doi:10.1182/blood-2003-05-1480. PMID 12969986.
  108. ↑ Notarangelo LD (February 2013). "In Wiskott-Aldrich syndrome, platelet count matters". Blood. 121 (9): 1484–5. doi:10.1182/blood-2013-01-475913. PMID 23449611.
  109. ↑ Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, de Saint Basile G, Delaunay J, Schwarz K, Casanova JL, Blanche S, Fischer A (May 2003). "Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients". Pediatrics. 111 (5 Pt 1): e622–7. PMID 12728121.
  110. ↑ Chen N, Zhang ZY, Liu DW, Liu W, Tang XM, Zhao XD (October 2015). "The clinical features of autoimmunity in 53 patients with Wiskott-Aldrich syndrome in China: a single-center study". Eur. J. Pediatr. 174 (10): 1311–8. doi:10.1007/s00431-015-2527-3. PMID 25877044.
  111. ↑ Ohya T, Yanagimachi M, Iwasawa K, Umetsu S, Sogo T, Inui A, Fujisawa T, Ito S (December 2017). "Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene". World J. Gastroenterol. 23 (48): 8544–8552. doi:10.3748/wjg.v23.i48.8544. PMC 5752714. PMID 29358862.
  112. ↑ Cotelingam JD, Witebsky FG, Hsu SM, Blaese RM, Jaffe ES (1985). "Malignant lymphoma in patients with the Wiskott-Aldrich syndrome". Cancer Invest. 3 (6): 515–22. PMID 3910193.
  113. ↑ Yoshimi A, Kamachi Y, Imai K, Watanabe N, Nakadate H, Kanazawa T, Ozono S, Kobayashi R, Yoshida M, Kobayashi C, Hama A, Muramatsu H, Sasahara Y, Jakob M, Morio T, Ehl S, Manabe A, Niemeyer C, Kojima S (May 2013). "Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia". Pediatr Blood Cancer. 60 (5): 836–41. doi:10.1002/pbc.24359. PMID 23023736.
  114. ↑ Kobayashi R, Ariga T, Nonoyama S, Kanegane H, Tsuchiya S, Morio T, Yabe H, Nagatoshi Y, Kawa K, Tabuchi K, Tsuchida M, Miyawaki T, Kato S (November 2006). "Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan". Br. J. Haematol. 135 (3): 362–6. doi:10.1111/j.1365-2141.2006.06297.x. PMID 17032176.
  115. ↑ Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD (December 2004). "Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation". Blood. 104 (13): 4010–9. doi:10.1182/blood-2003-05-1592. PMID 15284122.
  116. ↑ Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C, Proust A, Ahluwalia J, Dogra S, Saikia B, Minz RW, Sehgal S (March 2012). "Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India". Asian Pac. J. Allergy Immunol. 30 (1): 71–8. PMID 22523910.
  117. ↑ De Bernardi A, Chessa Ricotti G, Galli L, Funis M (1990). "[Wiskott-Aldrich syndrome: description of a clinical case]". Pediatr Med Chir (in Italian). 12 (6): 691–3. PMID 2093894.
  118. ↑ Ochs HD, Slichter SJ, Harker LA, Von Behrens WE, Clark RA, Wedgwood RJ (February 1980). "The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets". Blood. 55 (2): 243–52. PMID 6444359.
  119. ↑ Buchbinder D, Nugent DJ, Fillipovich AH (2014). "Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments". Appl Clin Genet. 7: 55–66. doi:10.2147/TACG.S58444. PMC 4012343. PMID 24817816.
  120. ↑ Humblet-Baron S, Sather B, Anover S, Becker-Herman S, Kasprowicz DJ, Khim S, Nguyen T, Hudkins-Loya K, Alpers CE, Ziegler SF, Ochs H, Torgerson T, Campbell DJ, Rawlings DJ (February 2007). "Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis". J. Clin. Invest. 117 (2): 407–18. doi:10.1172/JCI29539. PMC 1764857. PMID 17218989.
  121. ↑ Orange JS, Ramesh N, Remold-O'Donnell E, Sasahara Y, Koopman L, Byrne M, Bonilla FA, Rosen FS, Geha RS, Strominger JL (August 2002). "Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses". Proc. Natl. Acad. Sci. U.S.A. 99 (17): 11351–6. doi:10.1073/pnas.162376099. PMC 123260. PMID 12177428.
  122. ↑ Wu EY, Ehrlich L, Handly B, Frush DP, Buckley RH (November 2016). "Clinical and imaging considerations in primary immunodeficiency disorders: an update". Pediatr Radiol. 46 (12): 1630–1644. doi:10.1007/s00247-016-3684-x. PMC 5083248. PMID 27655432.
  123. ↑ Litzman J, Jones A, Hann I, Chapel H, Strobel S, Morgan G (November 1996). "Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome". Arch. Dis. Child. 75 (5): 436–9. PMC 1511781. PMID 8957959.
  124. ↑ Kim KR, Kim JM, Kang JM, Kim YJ (June 2016). "Pneumocystis jirovecii pneumonia in pediatric patients: an analysis of 15 confirmed consecutive cases during 14 years". Korean J Pediatr. 59 (6): 252–5. doi:10.3345/kjp.2016.59.6.252. PMC 4958702. PMID 27462353.
  125. ↑ Modiano P, Salloum E, Gillet-Terver MN, Barbaud A, Georges JC, Thouvenot D, Schmutz JL, Weber M (September 1995). "Acyclovir-resistant chronic cutaneous herpes simplex in Wiskott-Aldrich syndrome". Br. J. Dermatol. 133 (3): 475–8. PMID 8547009.
  126. ↑ Ferrara M, Capozzi L, Coppola A, Save G, Coppola L (August 2007). "Prophylactic platelet transfusion in children with thrombocytopenic disorders: a retrospective review". Hematology. 12 (4): 297–9. doi:10.1080/10245330701255213. PMID 17654055.
  127. ↑ Blaese RM, Strober W, Levy AL, Waldmann TA (November 1971). "Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome. A unique disorder of serum protein metabolism". J. Clin. Invest. 50 (11): 2331–8. doi:10.1172/JCI106731. PMC 292175. PMID 5096517.
  128. ↑ Kim JJ, Thrasher AJ, Jones AM, Davies EG, Cale CM (July 2007). "Rituximab for the treatment of autoimmune cytopenias in children with immune deficiency". Br. J. Haematol. 138 (1): 94–6. doi:10.1111/j.1365-2141.2007.06616.x. PMID 17498197.
  129. ↑ Gerrits AJ, Leven EA, Frelinger AL, Brigstocke SL, Berny-Lang MA, Mitchell WB, Revel-Vilk S, Tamary H, Carmichael SL, Barnard MR, Michelson AD, Bussel JB (September 2015). "Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia". Blood. 126 (11): 1367–78. doi:10.1182/blood-2014-09-602573. PMC 4729539. PMID 26224646.
  130. ↑ Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Díez IA, Dewey RA, Böhm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kühlcke K, Blasczyk R, Kondratenko I, Maródi L, Orange JS, von Kalle C, Klein C (November 2010). "Stem-cell gene therapy for the Wiskott-Aldrich syndrome". N. Engl. J. Med. 363 (20): 1918–27. doi:10.1056/NEJMoa1003548. PMC 3064520. PMID 21067383.
  131. ↑ Bach FH, Albertini RJ, Joo P, Anderson JL, Bortin MM (December 1968). "Bone-marrow transplantation in a patient with the Wiskott-Aldrich syndrome". Lancet. 2 (7583): 1364–6. PMID 4177931.
  132. ↑ Antoine C, Müller S, Cant A, Cavazzana-Calvo M, Veys P, Vossen J, Fasth A, Heilmann C, Wulffraat N, Seger R, Blanche S, Friedrich W, Abinun M, Davies G, Bredius R, Schulz A, Landais P, Fischer A (February 2003). "Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99". Lancet. 361 (9357): 553–60. PMID 12598139.
  133. ↑ Muñoz A, Olivé T, Martinez A, Bureo E, Maldonado MS, Diaz de Heredia C, Sastre A, Gonzalez-Vicent M (September 2007). "Allogeneic hemopoietic stem cell transplantation (HSCT) for Wiskott-Aldrich syndrome: a report of the Spanish Working Party for Blood and Marrow Transplantation in Children (GETMON)". Pediatr Hematol Oncol. 24 (6): 393–402. doi:10.1080/08880010701454404. PMID 17710656.
  134. ↑ Lum LG, Tubergen DG, Corash L, Blaese RM (April 1980). "Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome". N. Engl. J. Med. 302 (16): 892–6. doi:10.1056/NEJM198004173021604. PMID 6767187.
  135. ↑ Syrigos KN, Makrilia N, Neidhart J, Moutsos M, Tsimpoukis S, Kiagia M, Saif MW (September 2011). "Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report". Ital J Pediatr. 37: 42. doi:10.1186/1824-7288-37-42. PMC 3179709. PMID 21906397.
  136. ↑ Derry JM, Ochs HD, Francke U (August 1994). "Isolation of a novel gene mutated in Wiskott-Aldrich syndrome". Cell. 78 (4): 635–44. PMID 8069912.



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