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Table 2 Results of immunological and other diagnostic tests in the included patients. A: Immunological screening tests

From: Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Nr NP LP ↓G ↓A ↓M ↓IgG subclass Lymphocyte subsets Resp TV Resp P L function G function
1 - - + +* - na   ↑ aCD3, ↑ aCD3CD4 na na
2(a) - - + - + + IgG1, IgG3 ↓ aCD3, ↓ a smB nl nl ↓ NK toxicity Oxidative burst borderline ↓
In vitro lymphocyte proliferation: nl
3(a) - - - - - -   Borderline ↓ a smB nl nl ↓ vitro lymphocyte proliferation decreased from 7 years on: SEA Moderate ↓ oxidative burst
4 - - - + - na   na na nl na na
5 - - + +* + + IgG1, IgG2, IgG3 Absence of CD19 cells na na In vitro lymphocyte proliferation: nl na
6 - - - +* - -   ↑ aCD3, ↑ aCD3CD4, ↑ aCD19 nl nl na nl
7 - - - +* - na   ↓ aCD3, ↓ aCD3CD8 ↓ aCD19 na na na
8 - - + +* - na   nl na na na na
9 - - - - - -   ↑ aCD16/56 na nl na
10 - - - - - na   ↑ aCD3, ↑ aCD19, ↑ aCD16/56 nl na Thymic function: nl na
11 - - + - - na   ↓ aCD3CD8, ↓ aCD19, ↑ aCD16/56 na nl na nl
12 - - + + - na   ↑ aCD3, ↑ aCD3CD4, ↑ aCD19 nl na na na
13 + + + - - na   ↓ aCD3CD4, ↓ aCD19, ↓ aCD16/56, ↑ aCD3CD8 na na na na
14 - - - + + + IgG2, IgG4 nl na (j) na na
15(b) - - - - + -   nl na na nl nl
16(c) - - + + - + IgG1, IgG2, IgG4 ↓ aCD3, ↓ aCD3CD4, ↓ aCD19, ↓ aCD16/56 na na na na
17(d) - - - +* - +** IgG2, IgG4 nl na na na na
18(e) - - + - - + IgG1, IgG2, IgG4 ↓ aCD19, ↓ aCD16/56 na na na na
19(e) - - + +* - + IgG1 na na na na na
20(d) - - - +* - + IgG4 ↓ aCD16/56 na na na na
21 - - - - - + IgG3, IgG4 ↓ aCD19 cells, slightly ↓ aMZ-like B, ↑ aCD3, ↑ aCD3CD8 nl nl nl na
22 - + + + + -   ↓ aCD3, ↓ aCD3CD4, ↓ aCD3CD8, ↓aCD19 cells (BM) nl nl na na
23(f) - - + + - + IgG1, IgG2, IgG4 ↓ aCD3CD4, ↓ aCD16/56 nl nl(j) ↓ In vitro lymphocyte proliferation: PHA = 85 %, PWD = 72 %, ConA = 39 % na
24(f) - - + +* - +*** IgG2, IgG3, IgG4 ↓ aCD3CD8 nl nl(j) ↓ In vitro lymphocyte proliferation: PHA = 92 %, PWD = 87 %, ConA = 28 % na
25(g) - - + + + na   na nl ↓ In vitro lymphocyte proliferation: PHA na
26 - - + - + + IgG1, IgG3 na na na na
27 - - - - - -   ↓ aCD3, ↓ aCD3CD4, ↓ aCD3CD8, ↓ aCD19, ↓ aCD16/56 ↓ In vitro lymphocyte proliferation: PHA na
28 - - - + + na   ↑ aCD3, ↑ aCD3CD4, ↑ aCD3CD8, ↑ aCD19 nl nl na nl
29 - - - - - -   ↑ aCD3CD8, ↑ aCD19 nl na nl
30 - - - - + na   ↓ aCD3, ↓ aCD3CD8 cells, ↑ aCD19 nl na nl
31(h) - - - + - + IgG2 ↑ aCD3, ↑ aCD3CD4, ↑ aCD3CD8, ↑ aCD19 nl na nl
32 - - - + + na   ↑ aCD19 nl nl na nl
33 - - - - - + IgG1 na na nl na na
34 - - - - - -   nl na na nl
35 - - - + - + IgG2 nl na na na
36 - - + + - na   na na na na na
37 - - + + + + IgG1, IgG2 ↓ aCD3, ↓ aCD3CD8, ↓ aCD19, ↓ aCD16/56 cells, ↓ a memB na na na na
38(i) - - + - - na   na na na na
39(i) - - na na na na   ↑ aCD3CD4 na na na
40(i) - - - - - na   ↑ aCD3, ↑ aCD3CD4 na na na
41(i) - - - - - na   na na na na
42(i) - - - - - -   ↑ aCD3, ↑ aCD3CD4, ↑ aCD19, ↑ aCD16/56 na na na
43 - - + + - + IgG2 ↑ aCD3, ↑ aCD3CD4, ↑ aCD3CD8, ↑ aCD 19 nl na na
44 - - - - - + IgG1 na na na na na
45 - - - + - -   na na na na na
46 - - + + + na   nl na na na na
  1. Headings: Nr patient number, NP neutropenia, LP lymphopenia,↓G: low IgG,↓A: low IgA,↓M: low IgM.↓IgG subclass: low IgG subclasses, Resp TV response tetanus vaccine, Resp P response PneumoVax® or Pneumo23®, L function: lymphocyte function tests, G function: granulocyte function tests
  2. Patients: (a) previously published in Seidel MG, Duerr C, Woutsas S, et al. J Med Genet 2014;51:254–263, (b) previously published in Celmeli F, J Investig Allergol Clin Immunol. 2014;24(6):442–4, (c) previously published in Seppänen et al. J Clin Immunol 2014;34:114–118., (d) family members and previously published in Dostal et al. International Journal of Immu-genetics 2007;34: 143–147 : patient 17 as IV:4 and patient 20 as IV, (e) family members, together with excluded patient 2, 3 and 4, (f) publication in press, Calvo Campoverde K, et al. Allergologia et Immunopathologia 2016, (g) previously published in Fernandez-San Jose C, J Paediatr Child Health 2011;47(7):485–6. (h) previously published in Browning MJ, J Investig Allergol Clin Immu-l 2010;20(3):263–266, (i) previously published in Keller MD, et al. Am J Med Genet C Semin Med Genet. 2013;163C(1):50–4, (j) decreased response to Pneumovax ® or Pneumo23® based on total IgG for S. pneumoniae
  3. * IgA completely absent, ** IgG2 completely absent, ***IgG3 completely absent
  4. Other abbrevations: a absolute cell count, BM bone marrow, CD cluster of differentiation, ConA Concanavalin A, memB memory B cells, MZ marginal zone, na not available, nl normal, PHA phytohaemagglutinin, PWD pokeweed mitogen, SEA Staphylococcus aureus enterotoxin A, smB switched memory B cells