Wiskott-Aldrich syndrome: Difference between revisions

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Different types of Von-Willebrand diseases can be differentiated from each other based on the following table:<ref name="pmid258585643">{{cite journal |vauthors=Bodó I, Eikenboom J, Montgomery R, Patzke J, Schneppenheim R, Di Paola J |title=Platelet-dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH |journal=J. Thromb. Haemost. |volume=13 |issue=7 |pages=1345–50 |date=July 2015 |pmid=25858564 |pmc=5576173 |doi=10.1111/jth.12964 |url=}}</ref>
!Type of VWD
!
!Type of factor deficiency
!Prevalence
!Inheritance pattern
!Clinical manifestations
!VWF activity
!RIPA
!Factor VIII
|-
|Type 1
|
|Quantitative/ partial
|60-70%
|AD
|
* Bleeding severity mild to severe
|↓
|↓
|↓
|-
| rowspan="4" |Type 2
|2A<ref name="pmid1537829">{{cite journal |vauthors=Lyons SE, Bruck ME, Bowie EJ, Ginsburg D |title=Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations |journal=J. Biol. Chem. |volume=267 |issue=7 |pages=4424–30 |date=March 1992 |pmid=1537829 |doi= |url=}}</ref>
|Qualitative
|10%
|AD/AR
|
* Moderate to severe bleeding
|↓
|↓
|N or ↓
|-
|2B
|Qualitative
|5%
|AD
|
* [[Thrombocytopenia]]
* Moderate to severe bleeding
|↓
|↑
|N or↓
|-
|2M
|Qualitative
|<1%
|AD/AR
|
* Moderate to severe bleeding
|↓
|↓
|N or ↓
|-
|2N
|Qualitative
|<1%
|AR
|
* Clinically similar to [[hemophilia A]] with joint, soft tissue, urinary bleeding
|N
|N
|↓
|-
|Type 3
|
|Complete deficiency
|1-2%
|AR
|
* Clinically similar to [[hemophilia A]] with joint and soft tissue bleeding
* Severe [[mucosal bleeding]]
|Absent
|↓
|
Low, 1-10%
|}
For more information on Von Willebrand disease [[ von willebrand disease | click here]]
==Epidemiology and Demographics==
* Incidence of Wiskott-Aldrich syndrome is approximately 1


==Risk Factors==
==Risk Factors==
Line 883: Line 798:
===MRI===
===MRI===
*There are no specific [[Magnetic resonance imaging|MRI]] findings associated with Wiskott-Aldrich syndrome.
*There are no specific [[Magnetic resonance imaging|MRI]] findings associated with Wiskott-Aldrich syndrome.
===Other Imaging Findings===
* There are no other imaging findings associated with Wiscott-Aldrich syndrome.
===Other Diagnostic Studies===
* There are no other diagnostic tests associated with Wiskott-Aldrich syndrome.


==Treatment==
==Treatment==

Revision as of 14:16, 12 October 2018

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GraGrade de

Wiskott-Aldrich syndrome
ICD-10 D82.0
ICD-9 279.12
OMIM 301000
DiseasesDB 14176
MeSH D014923

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Chandrakala Yannam, MD [2]

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [3]

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 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[7][8][9]
  • History of prior infection
 + + + + + + ↓ ↑ Normal Normal Normal -
Medications-Induced thrombocytopenia [10][11] + + + + + + ↓ ↑ Normal Normal Normal Most important par of treatment is discontinuing of the medication.
Heparin-Induced thrombocytopenia[12] + + + + + + ↓ ↑ Normal Normal ↑ For more information click here: Heparin-induced thrombocytopenia.
Immune Thrombocytopenic Purpura (ITP)[13] + + + + + + ↓ ↑ Normal Normal Normal -
Inherited Thrombocytopenia[14][15]
  • Family history
 + + + + + + ↓ ↑ Normal Normal Normal -
Thrombotic Thrombocytopenic Purpura (TTP)[16][17] History of: + + + + + + ↓ ↑ Normal Normal Normal -
Hemolytic Uremic Syndrome[18][19] 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[20][21]
  • 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[22][23][24][25]
  • 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 [26][26][27][28][29] + + + + +/- +/- ↑ 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[30][31][32][32][33][34][35][36][37][38][39] Fibrinogen deficiency[40] 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[41][42][43][44][45][46] 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[47] + + + + + + ↓ ↑ ↑ ↑ Normal -
Vitamin K Deficiency[48] + - + + + + 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.[49]
  • 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.[50]

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. ↑ 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.
  8. ↑ 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)
  9. ↑ 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.
  10. ↑ Kam T, Alexander M (October 2014). "Drug-induced immune thrombocytopenia". J Pharm Pract. 27 (5): 430–9. doi:10.1177/0897190014546099. PMID 25134884.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ 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.
  16. ↑ Knöbl P (2018). "Thrombotic thrombocytopenic purpura". Memo. 11 (3): 220–226. doi:10.1007/s12254-018-0429-6. PMID 30220931.
  17. ↑ 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.
  18. ↑ 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.
  19. ↑ 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.
  20. ↑ 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.
  21. ↑ 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.
  22. ↑ 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.
  23. ↑ 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.
  24. ↑ 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.
  25. ↑ 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.
  26. ↑ 26.0 26.1 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.
  27. ↑ 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.
  28. ↑ 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.
  29. ↑ 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.
  30. ↑ 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.
  31. ↑ 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.
  32. ↑ 32.0 32.1 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.
  33. ↑ 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.
  34. ↑ 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.
  35. ↑ 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.
  36. ↑ 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.
  37. ↑ Quail MT (2013). "Prekallikrein deficiency". J Pediatr Oncol Nurs. 30 (4): 198–204. doi:10.1177/1043454213487436. PMID 23629422.
  38. ↑ 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.
  39. ↑ 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.
  40. ↑ 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.
  41. ↑ Aviña-Zubieta JA, Galindo-Rodriguez G, Lavalle C (January 1998). "Rheumatic manifestations of hematologic disorders". Curr Opin Rheumatol. 10 (1): 86–90. PMID 9448995.
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  50. ↑ 50.0 50.1 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.
  51. ↑ 51.0 51.1 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.
  52. ↑ WEINTRAUB HD, WILSON WJ (August 1964). "PNEUMOCYSTIS CARINII PNEUMONIA IN WISKOTT-ALDRICH SYNDROME". Am. J. Dis. Child. 108: 198–200. PMID 14159941.
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  54. ↑ 54.0 54.1 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.
  55. ↑ 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.
  56. ↑ 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.
  57. ↑ 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.
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  73. ↑ 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.
  74. ↑ 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.
  75. ↑ 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.
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  78. ↑ 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.
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  81. ↑ 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.
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