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. Author manuscript; available in PMC: 2010 Jul 22.
Published in final edited form as: J Allergy Clin Immunol. 2007 Nov;120(5):1178–1185. doi: 10.1016/j.jaci.2007.10.001

TABLE I.

Clinical information and immunoglobulin levels on patients with mutations*

Patient no. Sex Age (y) Mutation Clinical IgG§ IgA IgM
1 F 62 C104R ITP*, splenomegaly, splenectomy 251 <6 27
2 M 46 C172Y Frequent URI, chronic otitis media, hearing loss 490 18 33
3 F 44 C104R
S194X
AIHA/Coombs positive anemia ×3, ITP ×3; numerous pneumonias; pulmonary infiltrates, splenomegaly; splenectomy 200 <6 24
4 F 44 L171R
A181E
URIs, arthritis, Sweet syndrome, pneumonia, aseptic meningitis 392 59 6
5 F 58 C104R
S144X
Urticaria and angioedema, allergies/joint pain 332 48 14
6 F 66 A181E Juvenile RA, rheumatic fever, microscopic colitis pneumonia, sinusitis, otitis, cardiac valve replacement, lymphadenopathy, splenomegaly, ITP, anti-IgA Ab 594 <7 34
7 F 43 C104R Seizure disorder, colitis, sinusitis 164 <5 5
8 F 50 R72H Recurrent URI, sinusitis, pneumonia, breast cancer 293 110 90
9 M 45 C104R ITP, pan-sinusitis, pneumonia ×4; granulomatous skin disease <7 <7 6
10 F 41 C104R ITP, lymphadenopathy, granulomatous infiltrates, neutropenia, splenomegaly, splenectomy 475 47 54
11 F 17 A181E Sinusitis, myringotomy tubes 371 14 4
12 F 26 A181E Granulomatous lesions skin, lungs: fibronodular infiltrates, arthritis, ITP, splenomegaly, splenectomy, diarrhea/uveitis AIHA/Coombs positive anemia 164 5 20
13 F 67 C104R Chronic sinusitis, bronchitis, chronic rectal herpes simplex 530 11 <5

Of the 176 subjects with CVID, 30 (17%) had an exon five P251L single nucleotide polymorphism (SNP), and 7 others had V220A SNP, both found previously in normal subjects. In 2 of the subjects with CVID, the P251L SNP was homozygous. (These subjects are not considered further here.)

*

ITP, Immune thrombocytopenia purpura; AIHA, autoimmune hemolytic anemia; F, female; JRA, juvenile rheumatoid arthritis; M, male; ND, not done; RA, rheumatoid arthritis; URI, upper respiratory tract infections.

X-linked agammaglobulinemia excluded by genetic analysis of Btk.

§

Before immunoglobulin replacement: serum immunoglobulins (mg/dL); normal ranges for adults: IgG, 694–1618; IgA, 81–463; IgM, 48–271 mg/dL; IgG1, 344–966; IgG2,133–622; IgG3,12–138; IgG4, 1–115 mg/dL.

HHS Vulnerability Disclosure