Page 1257 - Williams Hematology ( PDFDrive )

1232 Part IX: Lymphocytes and Plasma Cells Chapter 80: Immunodeficiency Diseases 1233

GENETICALLY DETERMINED 9. van der Meer JW, Weening RS, Schellekens PT, et al: Colorectal cancer in patients with
X-linked agammaglobulinaemia. Lancet 341:1439–1440, 1993.
DEFICIENCIES OF THE COMPLEMENT 10. Murray PR, Jain A, Uzel G, et al: Pyoderma gangrenosum-like ulcer in a patient with
X-linked agammaglobulinemia: Identification of Helicobacter bilis by mass spectrome-
try analysis. Arch Dermatol 146:523–526, 2010.
SYSTEM 11. Futatani T, Watanabe C, Baba Y, et al: Bruton’s tyrosine kinase is present in normal
platelets and its absence identifies patients with X-linked agammaglobulinaemia and
The complement (C) system consists of the classical and alternative carrier females. Br J Haematol 114:141–149, 2001.
320
pathways and the membrane attack complex, and is composed of a 12. Ziegner UH, Kobayashi RH, Cunningham-Rundles C, et al: Progressive neurodegen-
series of plasma proteins that play an important role in host defense, eration in patients with primary immunodeficiency disease on IVIG treatment. Clin
Immunol 102:19–24, 2002.
inflammation, clearance of immune complexes and apoptotic cells, and 13. Jain A, Ma CA, Liu S, et al: Specific missense mutations in NEMO result in hyper-IgM
induction of a normal humoral immune response (Chap. 19). Muta- syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2:223–228, 2001.
tions in the classical pathway (C1q, C1r/C1s, C4, C2, and C3) result 14. Peron S, Metin A, Gardes P, et al: Human PMS2 deficiency is associated with impaired
in pyogenic infections and autoimmune diseases. Mutations affecting immunoglobulin class switch recombination. J Exp Med 205:2465–2472, 2008.
the alternative pathway (factors B, D, properidin) result in meningococ- 15. Etzioni A, Ben-Barak A, Peron S, et al: Ataxia-telangiectasia in twins presenting as
autosomal recessive hyper-immunoglobulin M syndrome. Isr Med Assoc J 9:406–407,
cal and pneumococcal sepsis. Mutations in the terminal components 2007.
(C5–C9) are associated with an increased susceptibility to Neisseria 16. Notarangelo LD, Gilani S, Pleabani A: CD40 and CD40 ligand deficiencies, in Primary
species, especially meningococcal sepsis and meningitis. C1 inhibitor Immunodeficiency Diseases, A Molecular and Genetic Approach, 3rd ed, edited by Ochs
HD, Smith CIE, Puck JM, p 324. Oxford University Press, New York, 2014.
deficiency, an AD disorder, is the cause of hereditary angioedema. All 17. Hayward AR, Levy J, Facchetti F, et al: Cholangiopathy and tumors of the pancreas,
other complement-component deficiencies have an autosomal recessive liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J
Immunol 158:977–983, 1997.
mode of inheritance with the exception of properidin deficiency, which 18. Agematsu K, Nagumo H, Shinozaki K, et al: Absence of IgD-CD27(+) memory B cell
is X-linked. population in X-linked hyper-IgM syndrome. J Clin Invest 102:853–860, 1998.
The most important screening tests for complement deficiencies 19. Ameratunga R, Lederman HM, Sullivan KE, et al: Defective antigen-induced lympho-
are those using the assessment of the hemolytic function of both the cyte proliferation in the X-linked hyper-IgM syndrome. J Pediatr 131:147–150, 1997.
classic and alternative pathways, CH50 and AH50, respectively. If both 20. Seyama K, Kobayashi R, Hasle H, et al: Parvovirus B19-induced anemia as the present-
ing manifestation of X-linked hyper-IgM syndrome. J Infect Dis 178:318–324, 1998.
tests are normal, a complement deficiency is unlikely. If CH50 is absent 21. Levy J, Espanol-Boren T, Thomas C, et al: Clinical spectrum of X-linked hyper-IgM
and AH50 normal, a defect of C1, C4, or C2 is likely. Normal CH50 but syndrome. J Pediatr 131:47–54, 1997.
absent AH50 suggests a defect of properdin or factor D. If both tests 22. Al-Saud BK, Al-Sum Z, Alassiri H, et al: Clinical, immunological, and molecular char-
acterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients. J Clin
are abnormal, the defect most likely affects C3 to C8. Deficiency of Immunol 33:1325–1335, 2013.
C9 results usually in a CH50 value that is approximately half of normal. 23. Durandy A, Kracker S, Fischer A: Autosomal IgCSR deficiencies caused by an intrin-
To pinpoint the specific complement component deficiency, immu- sic B-cell defect, in Primary Immunodeficiency Diseases, A Molecular and Genetic
nochemical tests using component specific antibodies or functional Approach, 3rd ed, edited by Ochs HD, Smith CIE, Puck JM, p 343. Oxford University
Press, New York, 2014.
assays using in vitro reconstitution of the hemolytic function are rec- 24. Picard C, Orange JS, Puel A, et al: Inborn errors of NF-KB immunity, in Primary Immu-
ommended. Mutations and single nucleotide polymorphisms (SNPs) nodeficiency Diseases, A Molecular and Genetic Approach, 3rd ed, edited by Ochs HD,
Smith CIE, Puck JM, p 467. Oxford University Press, New York, 2014.
in the complement regulatory proteins factor H and factor I are impli- 25. Schimke LF, Rieber N, Rylaarsdam S, et al: A novel gain-of-function IKBA mutation
cated in atypical hemolytic uremic syndrome and age-related macular underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. J Clin
degeneration. 320,321 Treatment of complement-component deficiencies Immunol 33:1088–1099, 2013.
depends on the defect and may include frequent immunizations using 26. Hanson EP, Monaco-Shawver L, Solt LA, et al: Hypomorphic nuclear factor-kappaB
essential modulator mutation database and reconstitution system identifies phenotypic
the appropriate vaccines, antibiotic prophylaxis, and workup for sepsis and immunologic diversity. J Allergy Clin Immunol 122:1169–1177 e16, 2008.
if the clinical symptoms suggest bacterial infections. Autoimmune dis- 27. Salzer U, Warnatz K, Peter HH: Common variable immunodeficiency—An update.
orders are treated symptomatically, using the same immunosuppressive Arthritis Res Ther 14:223, 2012.
agents and antiinflammatory medications as those used in the general 28. Chen K, Coonrod EM, Kumanovics A, et al: Germline mutations in NFKB2 implicate
the noncanonical NF-kappaB pathway in the pathogenesis of common variable immu-
population. Management of angioedema has been revolutionized by C1 nodeficiency. Am J Hum Genet 93:812–824, 2013.
esterase inhibitor concentrate (Cinryze, Berinert), which is most effec- 29. Lucas CL, Kuehn HS, Zhao F, et al: Dominant-activating germline mutations in the
tive for the treatment of acute attacks and by the kallikrein inhibitor gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and
human immunodeficiency. Nat Immunol 15:88–97, 2014.
Kalbitor (Dyax) and the bradykinin receptor antagonist Firazyr (Shire). 30. Angulo I, Vadas O, Garcon F, et al: Phosphoinositide 3-kinase delta gene mutation pre-
disposes to respiratory infection and airway damage. Science 342:866–871, 2013.
31. Salzer E, Santos-Valente E, Klaver S, et al: B-cell deficiency and severe autoimmunity
REFERENCES caused by deficiency of protein kinase C delta. Blood 121:3112–3116, 2013.
32. Resnick ES, Moshier EL, Godbold JH, et al: Morbidity and mortality in common vari-
1. Winkelstein JA, Marino MC, Lederman HM, et al: X-linked agammaglobulinemia: able immune deficiency over 4 decades. Blood 119:1650–1657, 2012.
Report on a United States registry of 201 patients. Medicine (Baltimore) 85:193–202, 33. Cunningham-Rundles C, Siegal FP, Cunningham-Rundles S, et al: Incidence of cancer in
2006. 98 patients with common varied immunodeficiency. J Clin Immunol 7:294–299, 1987.
2. Conley ME, Dobbs AK, Farmer DM, et al: Primary B cell immunodeficiencies: Com- 34. Cunningham-Rundles C, Cooper DL, Duffy TP, et al: Lymphomas of mucosal-associated
parisons and contrasts. Annu Rev Immunol 27:199–227, 2009. lymphoid tissue in common variable immunodeficiency. Am J Hematol 69:171–178,
3. Conley ME, Dobbs AK, Quintana AM, et al: Agammaglobulinemia and absent B lineage 2002.
cells in a patient lacking the p85alpha subunit of PI3K. J Exp Med 209:463–470, 2012. 35. Van der Hilst JC, Smits BW, van der Meer JW: Hypogammaglobulinaemia: Cumulative
4. Boisson B, Wang YD, Bosompem A, et al: A recurrent dominant negative E47 mutation experience in 49 patients in a tertiary care institution. Neth J Med 60:140–147, 2002.
causes agammaglobulinemia and BCR(–) B cells. J Clin Invest 123:4781–4785, 2013. 36. Koistinen J: Selective IgA deficiency in blood donors. Vox Sang 29:192–202, 1975.
5. Lederman HM, Winkelstein JA: X-linked agammaglobulinemia: An analysis of 96 37. Kanoh T, Mizumoto T, Yasuda N, et al: Selective IgA deficiency in Japanese blood
patients. Medicine (Baltimore) 64:145–156, 1985. donors: Frequency and statistical analysis. Vox Sang 50:81–86, 1986.
6. Plebani A, Soresina A, Rondelli R, et al: Clinical, immunological, and molecular anal- 38. Oxelius VA, Laurell AB, Lindquist B, et al: IgG subclasses in selective IgA deficiency:
ysis in a large cohort of patients with X-linked agammaglobulinemia: An Italian multi- Importance of IgG2-IgA deficiency. N Engl J Med 304:1476–1477, 1981.
center study. Clin Immunol 104:221–230, 2002. 39. Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al: Deleterious mutations in
7. Franz A, Webster AD, Furr PM, et al: Mycoplasmal arthritis in patients with primary LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J
immunoglobulin deficiency: Clinical features and outcome in 18 patients. Br J Rheumatol Hum Genet 90:986–1001, 2012.
36:661–668, 1997. 40. Alangari A, Alsultan A, Adly N, et al: LPS-responsive beige-like anchor (LRBA) gene
8. McKinney RE Jr, Katz SL, Wilfert CM: Chronic enteroviral meningoencephalitis in mutation in a family with inflammatory bowel disease and combined immunodefi-
agammaglobulinemic patients. Rev Infect Dis 9:334–356, 1987. ciency. J Allergy Clin Immunol 130:481–488 e2, 2012.

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