Wiskott-Aldrich syndrome: Difference between revisions

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A defect in [[CD43]] molecule has been found to be associated in patients with Wiskott–Aldrich syndrome.<ref name="CD43 a defective molecule in Wiskott-Aldrich syndrome">{{cite pmid|1683685}}</ref>
A defect in [[CD43]] molecule has been found to be associated in patients with Wiskott–Aldrich syndrome.<ref name="CD43 a defective molecule in Wiskott-Aldrich syndrome">{{cite pmid|1683685}}</ref>


==Differentiating Wiskott-Aldrich syndrome from Other Diseases==
==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:<ref name="pmid17910333">{{cite journal |vauthors=Agarwal S, Cunningham-Rundles C |title=Assessment and clinical interpretation of reduced IgG values |journal=Ann. Allergy Asthma Immunol. |volume=99 |issue=3 |pages=281–3 |date=September 2007 |pmid=17910333 |pmc=3099256 |doi=10.1016/S1081-1206(10)60665-5 |url=}}</ref><ref name="pmid7679206">{{cite journal |vauthors=Korthäuer U, Graf D, Mages HW, Brière F, Padayachee M, Malcolm S, Ugazio AG, Notarangelo LD, Levinsky RJ, Kroczek RA |title=Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM |journal=Nature |volume=361 |issue=6412 |pages=539–41 |date=February 1993 |pmid=7679206 |doi=10.1038/361539a0 |url=}}</ref><ref name="pmid9255191">{{cite journal |vauthors=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 |title=Clinical spectrum of X-linked hyper-IgM syndrome |journal=J. Pediatr. |volume=131 |issue=1 Pt 1 |pages=47–54 |date=July 1997 |pmid=9255191 |doi= |url=}}</ref><ref name="pmid14663287">{{cite journal |vauthors=Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME |title=The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients |journal=Medicine (Baltimore) |volume=82 |issue=6 |pages=373–84 |date=November 2003 |pmid=14663287 |doi=10.1097/01.md.0000100046.06009.b0 |url=}}</ref><ref name="pmid10352287">{{cite journal |vauthors=Subauste CS, Wessendarp M, Sorensen RU, Leiva LE |title=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 |journal=J. Immunol. |volume=162 |issue=11 |pages=6690–700 |date=June 1999 |pmid=10352287 |doi= |url=}}</ref><ref name="pmid8993019">{{cite journal |vauthors=Hayward AR, Levy J, Facchetti F, Notarangelo L, Ochs HD, Etzioni A, Bonnefoy JY, Cosyns M, Weinberg A |title=Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM |journal=J. Immunol. |volume=158 |issue=2 |pages=977–83 |date=January 1997 |pmid=8993019 |doi= |url=}}</ref><ref name="pmid20180797">{{cite journal |vauthors=Davies EG, Thrasher AJ |title=Update on the hyper immunoglobulin M syndromes |journal=Br. J. Haematol. |volume=149 |issue=2 |pages=167–80 |date=April 2010 |pmid=20180797 |pmc=2855828 |doi=10.1111/j.1365-2141.2010.08077.x |url=}}</ref><ref name="pmid20101521">{{cite journal |vauthors=Yel L |title=Selective IgA deficiency |journal=J. Clin. Immunol. |volume=30 |issue=1 |pages=10–6 |date=January 2010 |pmid=20101521 |pmc=2821513 |doi=10.1007/s10875-009-9357-x |url=}}</ref><ref name="pmid19153537">{{cite journal |vauthors=Suzuki H, Kaneko H, Fukao T, Jin R, Kawamoto N, Asano T, Matsui E, Kasahara K, Kondo N |title=Various expression patterns of alpha1 and alpha2 genes in IgA deficiency |journal=Allergol Int |volume=58 |issue=1 |pages=111–7 |date=March 2009 |pmid=19153537 |doi=10.2332/allergolint.O-08-549 |url=}}</ref><ref name="pmid11720003">{{cite journal |vauthors=Cunningham-Rundles C |title=Physiology of IgA and IgA deficiency |journal=J. Clin. Immunol. |volume=21 |issue=5 |pages=303–9 |date=September 2001 |pmid=11720003 |doi= |url=}}</ref><ref name="pmid15093556">{{cite journal |vauthors=Edwards E, Razvi S, Cunningham-Rundles C |title=IgA deficiency: clinical correlates and responses to pneumococcal vaccine |journal=Clin. Immunol. |volume=111 |issue=1 |pages=93–7 |date=April 2004 |pmid=15093556 |doi=10.1016/j.clim.2003.12.005 |url=}}</ref><ref name="pmid305332">{{cite journal |vauthors=Chipps BE, Talamo RC, Winkelstein JA |title=IgA deficiency, recurrent pneumonias, and bronchiectasis |journal=Chest |volume=73 |issue=4 |pages=519–26 |date=April 1978 |pmid=305332 |doi= |url=}}</ref><ref name="pmid5056860">{{cite journal |vauthors=Zinneman HH, Kaplan AP |title=The association of giardiasis with reduced intestinal secretory immunoglobulin A |journal=Am J Dig Dis |volume=17 |issue=9 |pages=793–7 |date=September 1972 |pmid=5056860 |doi= |url=}}</ref><ref name="pmid18683032">{{cite journal |vauthors=Aghamohammadi A, Cheraghi T, Gharagozlou M, Movahedi M, Rezaei N, Yeganeh M, Parvaneh N, Abolhassani H, Pourpak Z, Moin M |title=IgA deficiency: correlation between clinical and immunological phenotypes |journal=J. Clin. Immunol. |volume=29 |issue=1 |pages=130–6 |date=January 2009 |pmid=18683032 |doi=10.1007/s10875-008-9229-9 |url=}}</ref><ref name="pmid19541543">{{cite journal |vauthors=Janzi M, Kull I, Sjöberg R, Wan J, Melén E, Bayat N, Ostblom E, Pan-Hammarström Q, Nilsson P, Hammarström L |title=Selective IgA deficiency in early life: association to infections and allergic diseases during childhood |journal=Clin. Immunol. |volume=133 |issue=1 |pages=78–85 |date=October 2009 |pmid=19541543 |doi=10.1016/j.clim.2009.05.014 |url=}}</ref><ref name="pmid18202833">{{cite journal |vauthors=Jacob CM, Pastorino AC, Fahl K, Carneiro-Sampaio M, Monteiro RC |title=Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper |journal=J. Clin. Immunol. |volume=28 Suppl 1 |issue= |pages=S56–61 |date=May 2008 |pmid=18202833 |doi=10.1007/s10875-007-9163-2 |url=}}</ref><ref name="pmid10600329">{{cite journal |vauthors=Conley ME, Notarangelo LD, Etzioni A |title=Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies) |journal=Clin. Immunol. |volume=93 |issue=3 |pages=190–7 |date=December 1999 |pmid=10600329 |doi=10.1006/clim.1999.4799 |url=}}</ref><ref name="pmid4012343">{{cite journal |vauthors=Mayer RJ, Schiffer CA, Peterson BA, Silver RT, Cornwell GG, McIntyre OR, Rai KR, Budman DR, Ellison RR, Maguire M |title=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 |journal=Semin. Oncol. |volume=12 |issue=2 Suppl 3 |pages=84–90 |date=June 1985 |pmid=4012343 |doi= |url=}}</ref><ref name="pmid23527602">{{cite journal |vauthors=Massaad MJ, Ramesh N, Geha RS |title=Wiskott-Aldrich syndrome: a comprehensive review |journal=Ann. N. Y. Acad. Sci. |volume=1285 |issue= |pages=26–43 |date=May 2013 |pmid=23527602 |doi=10.1111/nyas.12049 |url=}}</ref><ref name="pmid29086100">{{cite journal |vauthors=Candotti F |title=Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome |journal=J. Clin. Immunol. |volume=38 |issue=1 |pages=13–27 |date=January 2018 |pmid=29086100 |doi=10.1007/s10875-017-0453-z |url=}}</ref><ref name="pmid28851742">{{cite journal |vauthors=Sereni L, Castiello MC, Villa A |title=Platelets in Wiskott-Aldrich syndrome: Victims or executioners? |journal=J. Leukoc. Biol. |volume=103 |issue=3 |pages=577–590 |date=March 2018 |pmid=28851742 |doi=10.1189/jlb.5MR0617-257R |url=}}</ref><ref name="pmid21178275">{{cite journal |vauthors=Blundell MP, Worth A, Bouma G, Thrasher AJ |title=The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function |journal=Dis. Markers |volume=29 |issue=3-4 |pages=157–75 |date=2010 |pmid=21178275 |pmc=3835520 |doi=10.3233/DMA-2010-0735 |url=}}</ref><ref name="pmid19351959">{{cite journal |vauthors=Bosticardo M, Marangoni F, Aiuti A, Villa A, Grazia Roncarolo M |title=Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome |journal=Blood |volume=113 |issue=25 |pages=6288–95 |date=June 2009 |pmid=19351959 |doi=10.1182/blood-2008-12-115253 |url=}}</ref><ref name="pmid11091267">{{cite journal |vauthors=Fischer A |title=Severe combined immunodeficiencies (SCID) |journal=Clin. Exp. Immunol. |volume=122 |issue=2 |pages=143–9 |date=November 2000 |pmid=11091267 |pmc=1905779 |doi= |url=}}</ref><ref name="pmid8462096">{{cite journal |vauthors=Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ |title=Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans |journal=Cell |volume=73 |issue=1 |pages=147–57 |date=April 1993 |pmid=8462096 |doi= |url=}}</ref><ref name="pmid8961626">{{cite journal |vauthors=Puck JM |title=IL2RGbase: a database of gamma c-chain defects causing human X-SCID |journal=Immunol. Today |volume=17 |issue=11 |pages=507–11 |date=November 1996 |pmid=8961626 |doi= |url=}}</ref><ref name="pmid104530">{{cite journal |vauthors=Rowiński J, Souchier C, Czyba JC |title=DNA content of cells in human buccal smears. A preliminary study |journal=Acta Histochem. |volume=62 |issue=2 |pages=276–81 |date=1978 |pmid=104530 |doi=10.1016/S0065-1281(78)80093-2 |url=}}</ref><ref name="pmid3436096">{{cite journal |vauthors=Morgan G, Levinsky RJ, Hugh-Jones K, Fairbanks LD, Morris GS, Simmonds HA |title=Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency |journal=Clin. Exp. Immunol. |volume=70 |issue=3 |pages=491–9 |date=December 1987 |pmid=3436096 |pmc=1542189 |doi= |url=}}</ref><ref name="pmid11091267">{{cite journal |vauthors=Fischer A |title=Severe combined immunodeficiencies (SCID) |journal=Clin. Exp. Immunol. |volume=122 |issue=2 |pages=143–9 |date=November 2000 |pmid=11091267 |pmc=1905779 |doi= |url=}}</ref><ref name="pmid7401839">{{cite journal |vauthors=Ballard RW, Cummings CW |title=Job's syndrome |journal=Laryngoscope |volume=90 |issue=8 Pt 1 |pages=1367–70 |date=August 1980 |pmid=7401839 |doi= |url=}}</ref><ref name="pmid18424333">{{cite journal |vauthors=Freeman AF, Holland SM |title=The hyper-IgE syndromes |journal=Immunol Allergy Clin North Am |volume=28 |issue=2 |pages=277–91, viii |date=May 2008 |pmid=18424333 |pmc=2683262 |doi=10.1016/j.iac.2008.01.005 |url=}}</ref><ref name="pmid17881745">{{cite journal |vauthors=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 |title=STAT3 mutations in the hyper-IgE syndrome |journal=N. Engl. J. Med. |volume=357 |issue=16 |pages=1608–19 |date=October 2007 |pmid=17881745 |doi=10.1056/NEJMoa073687 |url=}}</ref><ref name="pmid17098478">{{cite journal |vauthors=Ling JC, Freeman AF, Gharib AM, Arai AE, Lederman RJ, Rosing DR, Holland SM |title=Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome |journal=Clin. Immunol. |volume=122 |issue=3 |pages=255–8 |date=March 2007 |pmid=17098478 |doi=10.1016/j.clim.2006.10.005 |url=}}</ref><ref name="pmid3338649">{{cite journal |vauthors=Hutto JO, Bryan CS, Greene FL, White CJ, Gallin JI |title=Cryptococcosis of the colon resembling Crohn's disease in a patient with the hyperimmunoglobulinemia E-recurrent infection (Job's) syndrome |journal=Gastroenterology |volume=94 |issue=3 |pages=808–12 |date=March 1988 |pmid=3338649 |doi= |url=}}</ref><ref name="pmid10673653">{{cite journal |vauthors=O'Connell AC, Puck JM, Grimbacher B, Facchetti F, Majorana A, Gallin JI, Malech HL, Holland SM |title=Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome |journal=Oral Surg Oral Med Oral Pathol Oral Radiol Endod |volume=89 |issue=2 |pages=177–85 |date=February 2000 |pmid=10673653 |doi=10.1067/moe.2000.103129 |url=}}</ref><ref name="pmid23883805">{{cite journal |vauthors=Tam JS, Routes JM |title=Common variable immunodeficiency |journal=Am J Rhinol Allergy |volume=27 |issue=4 |pages=260–5 |date=2013 |pmid=23883805 |pmc=3901442 |doi=10.2500/ajra.2013.27.3899 |url=}}</ref><ref name="pmid22180439">{{cite journal |vauthors=Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C |title=Morbidity and mortality in common variable immune deficiency over 4 decades |journal=Blood |volume=119 |issue=7 |pages=1650–7 |date=February 2012 |pmid=22180439 |pmc=3286343 |doi=10.1182/blood-2011-09-377945 |url=}}</ref><ref name="pmid18419489">{{cite journal |vauthors=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 |title=Infections in 252 patients with common variable immunodeficiency |journal=Clin. Infect. Dis. |volume=46 |issue=10 |pages=1547–54 |date=May 2008 |pmid=18419489 |doi=10.1086/587669 |url=}}</ref><ref name="pmid3963038">{{cite journal |vauthors=Roifman CM, Rao CP, Lederman HM, Lavi S, Quinn P, Gelfand EW |title=Increased susceptibility to Mycoplasma infection in patients with hypogammaglobulinemia |journal=Am. J. Med. |volume=80 |issue=4 |pages=590–4 |date=April 1986 |pmid=3963038 |doi= |url=}}</ref><ref name="pmid21970952">{{cite journal |vauthors=Yong PF, Thaventhiran JE, Grimbacher B |title="A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011? |journal=Adv. Immunol. |volume=111 |issue= |pages=47–107 |date=2011 |pmid=21970952 |doi=10.1016/B978-0-12-385991-4.00002-7 |url=}}</ref><ref name="pmid16007087">{{cite journal |vauthors=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 |title=Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans |journal=Nat. Genet. |volume=37 |issue=8 |pages=820–8 |date=August 2005 |pmid=16007087 |doi=10.1038/ng1600 |url=}}</ref><ref name="pmid17510807">{{cite journal |vauthors=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 |title=Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency |journal=J. Clin. Immunol. |volume=27 |issue=3 |pages=308–16 |date=May 2007 |pmid=17510807 |doi=10.1007/s10875-007-9075-1 |url=}}</ref><ref name="pmid26564081">{{cite journal |vauthors=Nissenkorn A, Ben-Zeev B |title=Ataxia telangiectasia |journal=Handb Clin Neurol |volume=132 |issue= |pages=199–214 |date=2015 |pmid=26564081 |doi=10.1016/B978-0-444-62702-5.00014-7 |url=}}</ref><ref name="pmid27884168">{{cite journal |vauthors=Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM |title=Ataxia telangiectasia: a review |journal=Orphanet J Rare Dis |volume=11 |issue=1 |pages=159 |date=November 2016 |pmid=27884168 |pmc=5123280 |doi=10.1186/s13023-016-0543-7 |url=}}</ref><ref name="pmid9874856">{{cite journal |vauthors=Crawford TO |title=Ataxia telangiectasia |journal=Semin Pediatr Neurol |volume=5 |issue=4 |pages=287–94 |date=December 1998 |pmid=9874856 |doi= |url=}}</ref><ref name="pmid2415689">{{cite journal |vauthors=Boder E |title=Ataxia-telangiectasia: an overview |journal=Kroc Found Ser |volume=19 |issue= |pages=1–63 |date=1985 |pmid=2415689 |doi= |url=}}</ref><ref name="pmid22614068">{{cite journal |vauthors=Hoche F, Seidel K, Theis M, Vlaho S, Schubert R, Zielen S, Kieslich M |title=Neurodegeneration in ataxia telangiectasia: what is new? What is evident? |journal=Neuropediatrics |volume=43 |issue=3 |pages=119–29 |date=June 2012 |pmid=22614068 |doi=10.1055/s-0032-1313915 |url=}}</ref><ref name="pmid13542097">{{cite journal |vauthors=BODER E, SEDGWICK RP |title=Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection |journal=Pediatrics |volume=21 |issue=4 |pages=526–54 |date=April 1958 |pmid=13542097 |doi= |url=}}</ref><ref name="pmid24683014">{{cite journal |vauthors=Sahama I, Sinclair K, Pannek K, Lavin M, Rose S |title=Radiological imaging in ataxia telangiectasia: a review |journal=Cerebellum |volume=13 |issue=4 |pages=521–30 |date=August 2014 |pmid=24683014 |doi=10.1007/s12311-014-0557-4 |url=}}</ref><ref name="pmid23886747">{{cite journal |vauthors=Lin DD, Barker PB, Lederman HM, Crawford TO |title=Cerebral abnormalities in adults with ataxia-telangiectasia |journal=AJNR Am J Neuroradiol |volume=35 |issue=1 |pages=119–23 |date=January 2014 |pmid=23886747 |pmc=4106125 |doi=10.3174/ajnr.A3646 |url=}}</ref><ref name="pmid15069401">{{cite journal |vauthors=Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM |title=Immunodeficiency and infections in ataxia-telangiectasia |journal=J. 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{| class="wikitable"
|+
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disorder
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Defect (Mechanism of Development)
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Characteristic Features
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Clinical Presentation
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Laboratory Findings
|-
|[[X-linked agammaglobulinemia|'''X-Linked (Bruton) Agammaglobulinemia''']]
|
* Defect in [[tyrosine kinase]] [[gene]] ([[Bruton's tyrosine kinase|BTK]])
* [[B cells]] fail to mature
|
* [[X-linked recessive]] pattern of inheritance
* Increased [[prevalence]] in [[males]]
|
* Recurrent [[bacterial]] and [[enteroviral]] [[infections]] after 6 months of age
* Pre-disposition to development of [[infections]] by [[encapsulated organisms]]
* Pre-disposition to development of Giardia infections
* Absent lymph nodes and tonsils
|
* Normal [[CD19|CD19+ B cell]] count
* Decreased pro-[[B cells]]
* Increased pre-[[B cells]]
* Decreased [[immunoglobulins]] of all classes
|-
|[[IgA deficiency|'''Selective IgA Deficiency''']]
|
* [[Stem cell]] defect (Transferrable with [[Bone marrow transplant|marrow transplant]])
* Lack of [[Interleukin 4|IL-4]], [[Interleukin 6|IL-6]], [[Interleukin 7|IL-7]], [[Interleukin 10|IL-10]], [[TGF beta|TGF-β]], and [[Interleukin 21|IL-21]]
* [[Mutations]] in [[transmembrane]] activator and calcium-modulator and [[cyclophilin]] ligand interactor ([[TACI]], [[TNFRSF13B]])
|
* Most common primary [[immune deficiency]]
|
* Majority of the cases are [[asymptomatic]]
* Respiratory and [[gastrointestinal]] infections ([[mucosal]] infections)
* Associated with [[autoimmune diseases]]
* [[Atopy]]
* [[Anaphylaxis]] to [[IgA]] containing products
|
* Serum [[IgA]] < 7 mg/dl
* Normal [[IgG]] and [[IgM]] levels
|-
|[[Common variable immunodeficiency|'''Common Variable Immunodeficiency''']]
|
* Defective [[B cell]] differentiation
|
* May be acquired in 20-30 years of age
|
* May present with other [[autoimmune diseases]]
* Associated with [[bronchiectasis]]
* Associated with [[lymphoma]]
* Associated with sinopulmonary infections ([[Bacterial]], [[enteroviral]] and [[parasitic]] such as [[Giardia]])
|
* Decreased [[plasma cells]]
* Decreased [[immunoglobulins]]
|-
|[[Job's syndrome|'''Autosomal dominant hype IgE syndrome (Job's Syndrome)''']]
|
* Defieciency of [[T helper 17 cell|Th17 cells]] due to [[STAT3]] [[mutation]]
* Impaired [[neutrophils]] to sites of [[infection]]
|
* Distinctive coarse facies
* Cold (non-inflammatory) Staphylococcal abscesses
* Retained primary teeth
* Eczema
|
|
* Increased levels of [[IgE]]
* Decreased levels of [[interferon gamma]] (IFN-gamma)
|-
|[[Severe combined immunodeficiency|'''Severe combined immunodeficiency (SCID)''']]
|
* Defective [[Interleukin-2 receptor|interleukin-2 receptor gamma chain]]
* [[Adenosine deaminase]] deficiency
* Reg 1 and Reg 2 [[nonsense mutations]]
|
* [[Interleukin 20 receptor, alpha subunit|IL-2R]] disease is [[X-linked]]
* [[Adenosine deaminase|ADA]] deficiency and reg mutations are typically [[autosomal recessive]]
|
* [[Failure to thrive]]
* [[Chronic diarrhea]]
* [[Thrush]]
* Recurrent [[bacterial]], [[viral]] and [[protozoal]] infections
* Treatment is [[bone marrow]] [[transplant]]
|
* Decreased [[T cell]] receptor excision circles (TRECs)
* Abscence of [[thymic]] shadow on [[Chest X-ray|chest X-Ray]]
* Absent [[germinal centers]] of [[lymph node biopsy]]
* Absent [[T cells]] on [[flow cytometry]]
|-
|[[Ataxia telangiectasia|'''Ataxia Telangiectasia''']]
|
* Defect in [[ATM|ATM gene]]
* [[DNA]] double stranded breaks leading to [[cell cycle]] arrest
|
* Hypersensitivity to [[X-Ray|X-Rays]]
|
* Triad of:
** [[Ataxia]]
** Spider [[Angioma|angiomas]] (Nests of distended [[capillaries]])
** [[IgA deficiency]]
|
* Increased [[alpha fetoprotein]] ([[Alpha-fetoprotein|AFP]])
* Decreased [[IgA]], [[IgG]] and [[IgE]]
* [[Lymphopenia]]
* [[Cerebellar]] atrophy
|-
|[[Hyper IgM Syndrome Type 1|'''Hyper IgM Syndrome''']]
|
* Defective [[CD40L]] ([[CD40L|CD40 ligand]]) on [[T helper cell|Th cells]] leading to [[class switching]] defect
|
* [[X-linked recessive]] pattern of inheritance
|
* Severe pyogenic infections in early life
* Opportunistic infection with:
** [[Pneumocystis jiroveci]]
** [[Cryptosporidium]]
** [[Cytomegalovirus]] ([[Cytomegalovirus infection|CMV]])
|
* Increased [[Immunoglobulin M|IgM]]
* Decreased [[Immunoglobulin G|IgG]], [[IgA]] and [[Immunoglobulin E|IgE]]
* No [[germinal centers]]
|-
|[[Wiskott-Aldrich syndrome|'''Wiskott-Aldrich Syndrome''']]
|
* [[Mutation]] in [[WAS]] [[gene]]
* [[T cells]] unable to reorganize [[actin]] [[microfilaments]] ([[microfilament]] defect)
|
* [[X-linked recessive]] pattern of inheritance
* Increased risk of [[autoimmune disease]] and [[malignancy]]
|
* [[Thrombocytopenic purpura]]
* [[Eczema]]
* Recurrent [[infections]]
|
* Decreased to normal [[Immunoglobulin G|IgG]] and [[Immunoglobulin M|IgM]]
* Increased [[Immunoglobulin E|IgE]] and [[IgA]]
* Fewer and smaller [[platelets]]
|}
:*Malignancy: can cause the reduction in the immunoglobulin production.<ref>{{Cite journal
| author = [[T. Zenone]], [[P. J. Souquet]], [[C. Cunningham-Rundles]] & [[J. P. Bernard]]
| title = Hodgkin's disease associated with IgA and IgG subclass deficiency
| journal = [[Journal of internal medicine]]
| volume = 240
| issue = 2
| pages = 99–102
| year = 1996
| month = August
| pmid = 8810936
}}</ref>
*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.<ref>{{Cite journal
| author = [[W. B. Klaustermeyer]], [[M. E. Gianos]], [[M. L. Kurohara]], [[H. T. Dao]] & [[D. C. Heiner]]
| title = IgG subclass deficiency associated with corticosteroids in obstructive lung disease
| journal = [[Chest]]
| volume = 102
| issue = 4
| pages = 1137–1142
| year = 1992
| month = October
| pmid = 1343817
}}</ref>
*Other causes of primary humoral immunodeficiencies.
*Smoking: may cause IgG2 subclass deficiency.<ref>{{Cite journal
| author = [[I. Qvarfordt]], [[G. C. Riise]], [[B. A. Andersson]] & [[S. Larsson]]
| title = IgG subclasses in smokers with chronic bronchitis and recurrent exacerbations
| journal = [[Thorax]]
| volume = 56
| issue = 6
| pages = 445–449
| year = 2001
| month = June
| pmid = 11359959
}}</ref>
*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:
* 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:
{| class="wikitable" align="center" style="border: 0px; font-size: 90%; margin: 3px;"
{| class="wikitable" align="center" style="border: 0px; font-size: 90%; margin: 3px;"

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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 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.
  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.
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  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.
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  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.
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