X-linked agammaglobulinemia differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{X-linked agammaglobulinemia}}
{{X-linked agammaglobulinemia}}
{{CMG}}
{{CMG}}; {{AE}} {{HK}}
==Overview==
==Overview==
== Differential Diagnosis ==
Bruton's agammaglobulinemia should be differentiated from other disorders leading to [[hypogammaglobulinemia]] and defects of [[humoral immunity]].
==Differentiating IgG deficiency from other Diseases==
==Differentiating IgG deficiency from other Diseases==
Bruton's agammaglobulinemia 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>
Bruton's agammaglobulinemia 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>

Latest revision as of 12:14, 31 October 2018

X-linked agammaglobulinemia Microchapters

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

Overview

Bruton's agammaglobulinemia should be differentiated from other disorders leading to hypogammaglobulinemia and defects of humoral immunity.

Differentiating IgG deficiency from other Diseases

Bruton's agammaglobulinemia should be differentiated from other disorders leading to hypogammaglobulinemia and defects of humoral immunity. The following conditions may be considered as differentials:[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][24][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50]

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.[51]
  • 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.[52]
  • Other causes of primary humoral immunodeficiencies.
  • Smoking: may cause IgG2 subclass deficiency.[53]
  • Protein-losing conditions: enteropathies, nephrotic syndrome, burns, and other traumas may cause abnormal loss of immunoglobulins.

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ Cunningham-Rundles C (September 2001). "Physiology of IgA and IgA deficiency". J. Clin. Immunol. 21 (5): 303–9. PMID 11720003.
  11. ↑ 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.
  12. ↑ Chipps BE, Talamo RC, Winkelstein JA (April 1978). "IgA deficiency, recurrent pneumonias, and bronchiectasis". Chest. 73 (4): 519–26. PMID 305332.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ 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.
  16. ↑ 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.
  17. ↑ Conley ME, Notarangelo LD, Etzioni A (December 1999). "Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)". Clin. Immunol. 93 (3): 190–7. doi:10.1006/clim.1999.4799. PMID 10600329.
  18. ↑ 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.
  19. ↑ 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.
  20. ↑ 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.
  21. ↑ 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.
  22. ↑ 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.
  23. ↑ Bosticardo M, Marangoni F, Aiuti A, Villa A, Grazia Roncarolo M (June 2009). "Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome". Blood. 113 (25): 6288–95. doi:10.1182/blood-2008-12-115253. PMID 19351959.
  24. ↑ 24.0 24.1 Fischer A (November 2000). "Severe combined immunodeficiencies (SCID)". Clin. Exp. Immunol. 122 (2): 143–9. PMC 1905779. PMID 11091267.
  25. ↑ 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.
  26. ↑ Puck JM (November 1996). "IL2RGbase: a database of gamma c-chain defects causing human X-SCID". Immunol. Today. 17 (11): 507–11. PMID 8961626.
  27. ↑ 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.
  28. ↑ 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.
  29. ↑ Ballard RW, Cummings CW (August 1980). "Job's syndrome". Laryngoscope. 90 (8 Pt 1): 1367–70. PMID 7401839.
  30. ↑ 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.
  31. ↑ 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.
  32. ↑ 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.
  33. ↑ 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.
  34. ↑ 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.
  35. ↑ 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.
  36. ↑ 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.
  37. ↑ 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.
  38. ↑ Roifman CM, Rao CP, Lederman HM, Lavi S, Quinn P, Gelfand EW (April 1986). "Increased susceptibility to Mycoplasma infection in patients with hypogammaglobulinemia". Am. J. Med. 80 (4): 590–4. PMID 3963038.
  39. ↑ Yong PF, Thaventhiran JE, Grimbacher B (2011). ""A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?". Adv. Immunol. 111: 47–107. doi:10.1016/B978-0-12-385991-4.00002-7. PMID 21970952.
  40. ↑ Salzer U, Chapel HM, Webster AD, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schäffer AA, Hammarström L, Grimbacher B (August 2005). "Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans". Nat. Genet. 37 (8): 820–8. doi:10.1038/ng1600. PMID 16007087.
  41. ↑ Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C, Claudio P, Franco D, Maria Pesce A, Borghese F, Guerra A, Rondelli R, Plebani A (May 2007). "Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency". J. Clin. Immunol. 27 (3): 308–16. doi:10.1007/s10875-007-9075-1. PMID 17510807.
  42. ↑ Nissenkorn A, Ben-Zeev B (2015). "Ataxia telangiectasia". Handb Clin Neurol. 132: 199–214. doi:10.1016/B978-0-444-62702-5.00014-7. PMID 26564081.
  43. ↑ Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM (November 2016). "Ataxia telangiectasia: a review". Orphanet J Rare Dis. 11 (1): 159. doi:10.1186/s13023-016-0543-7. PMC 5123280. PMID 27884168.
  44. ↑ Crawford TO (December 1998). "Ataxia telangiectasia". Semin Pediatr Neurol. 5 (4): 287–94. PMID 9874856.
  45. ↑ Boder E (1985). "Ataxia-telangiectasia: an overview". Kroc Found Ser. 19: 1–63. PMID 2415689.
  46. ↑ Hoche F, Seidel K, Theis M, Vlaho S, Schubert R, Zielen S, Kieslich M (June 2012). "Neurodegeneration in ataxia telangiectasia: what is new? What is evident?". Neuropediatrics. 43 (3): 119–29. doi:10.1055/s-0032-1313915. PMID 22614068.
  47. ↑ BODER E, SEDGWICK RP (April 1958). "Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection". Pediatrics. 21 (4): 526–54. PMID 13542097.
  48. ↑ Sahama I, Sinclair K, Pannek K, Lavin M, Rose S (August 2014). "Radiological imaging in ataxia telangiectasia: a review". Cerebellum. 13 (4): 521–30. doi:10.1007/s12311-014-0557-4. PMID 24683014.
  49. ↑ Lin DD, Barker PB, Lederman HM, Crawford TO (January 2014). "Cerebral abnormalities in adults with ataxia-telangiectasia". AJNR Am J Neuroradiol. 35 (1): 119–23. doi:10.3174/ajnr.A3646. PMC 4106125. PMID 23886747.
  50. ↑ Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM (April 2004). "Immunodeficiency and infections in ataxia-telangiectasia". J. Pediatr. 144 (4): 505–11. doi:10.1016/j.jpeds.2003.12.046. PMID 15069401.
  51. ↑ T. Zenone, P. J. Souquet, C. Cunningham-Rundles & J. P. Bernard (1996). "Hodgkin's disease associated with IgA and IgG subclass deficiency". Journal of internal medicine. 240 (2): 99–102. PMID 8810936. Unknown parameter |month= ignored (help)
  52. ↑ W. B. Klaustermeyer, M. E. Gianos, M. L. Kurohara, H. T. Dao & D. C. Heiner (1992). "IgG subclass deficiency associated with corticosteroids in obstructive lung disease". Chest. 102 (4): 1137–1142. PMID 1343817. Unknown parameter |month= ignored (help)
  53. ↑ I. Qvarfordt, G. C. Riise, B. A. Andersson & S. Larsson (2001). "IgG subclasses in smokers with chronic bronchitis and recurrent exacerbations". Thorax. 56 (6): 445–449. PMID 11359959. Unknown parameter |month= ignored (help)

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