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Revision as of 12:37, 1 November 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] Syed Hassan A. Kazmi BSc, MD [3]

Associate Editor-In-Chief: 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.
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  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.
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  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.
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  30. ↑ 30.0 30.1 Fischer A (November 2000). "Severe combined immunodeficiencies (SCID)". Clin. Exp. Immunol. 122 (2): 143–9. PMC 1905779. PMID 11091267.
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  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.
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  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.
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