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==Differentiating Wiskott-Aldrich Syndrome From Other Disorders of Humoral Imuunodeficiency==
==pic==
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. Pediatr. |volume=144 |issue=4 |pages=505–11 |date=April 2004 |pmid=15069401 |doi=10.1016/j.jpeds.2003.12.046 |url=}}</ref>
{| 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.
 
{|
{|
|[[image:LowKECG.png|thumb|700px|center|An ECG in a person with a potassium level of 1.1 showing the classical ECG changes of ST segment depression, inverted T waves, large U waves, and a slightly prolonged PR interval. By James Heilman, MD - Own work, CC BY-SA 3.0]]
|[[image:LowKECG.png|thumb|700px|center|An ECG in a person with a potassium level of 1.1 showing the classical ECG changes of ST segment depression, inverted T waves, large U waves, and a slightly prolonged PR interval. By James Heilman, MD - Own work, CC BY-SA 3.0]]
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[[image:LowKECG.png|thumb|700px|center|An ECG in a person with a potassium level of 1.1 showing the classical ECG changes of ST segment depression, inverted T waves, large U waves, and a slightly prolonged PR interval. By James Heilman, MD - Own work, CC BY-SA 3.0<ref name="urlFile:LowKECG.JPG - Wikimedia Commons">{{cite web |url=https://commons.wikimedia.org/w/index.php?curid=12210926 |title=File:LowKECG.JPG - Wikimedia Commons |format= |work= |accessdate=}}</ref>]]
[[image:LowKECG.png|thumb|700px|right|An ECG in a person with a potassium level of 1.1 showing the classical ECG changes of ST segment depression, inverted T waves, large U waves, and a slightly prolonged PR interval. By James Heilman, MD - Own work, CC BY-SA 3.0]]
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*[[Lung]]
*[[Lung]]
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| align="center" style="background:#F5F5F5;" + |
*[[Lung]]
*[[Lung]]
|}
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<references />

Latest revision as of 02:27, 23 May 2019

pic

An ECG in a person with a potassium level of 1.1 showing the classical ECG changes of ST segment depression, inverted T waves, large U waves, and a slightly prolonged PR interval. By James Heilman, MD - Own work, CC BY-SA 3.0


An ECG in a person with a potassium level of 1.1 showing the classical ECG changes of ST segment depression, inverted T waves, large U waves, and a slightly prolonged PR interval. By James Heilman, MD - Own work, CC BY-SA 3.0


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Table

Complications Polymyositis Dermatomyositis
Malignancy