TABLE II.
Clinical and laboratory characteristics of subjects with other PAD
| Characteristic | HIgM | IgAD | XLA | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
|
| ||||||||||
| Gene | CD40LG | CD40LG | AICDA | NA | BTK | |||||
| Mutation (cDNA location) | 580delG | 632C>A | * | NA | † | † | 138C>T | † | ||
| Sex | M | M | F | M | M | F | M | M | M | M |
| Age (y) | 19 | 40 | 41 | 73 | 35 | 15 | 41 | 37 | 11 | 19 |
| History of: | ||||||||||
| Sinusitis | X | X | X | X | X | X | X | X | ||
| Pneumonia | X | ‡ | X | X | X | |||||
| Bronchiectasis | X | |||||||||
| ILD | ||||||||||
| IBD | X | X | ||||||||
| Liver disease | X | |||||||||
| Autoimmunity | X | |||||||||
| Lab values | ||||||||||
| Diagnostic IgG (mg/dL) | 374 | NA | <51 | 779 | 871 | 621 | 272 | NA | 410 | NA |
| Diagnostic IgA (mg/dL) | 23 | <5 | 5 | <5 | <7 | <5 | <7 | <5 | <7 | <5 |
| Diagnostic IgM (mg/dL) | 707 | 1543 | 1367 | 45 | 60 | 15 | <5 | <5 | <4 | <5 |
| Neutrophils (103/μL) | 2 | 5.2 | 3.5 | 5.2 | 4.6 | 3.9 | 0.8 | 4.5 | 3.0 | 2.9 |
| Monocytes (103/μL) | 0.4 | 0.8 | 0.3 | 0.7 | 0.5 | 0.6 | 0.2 | 1.3 | 0.7 | 0.7 |
| Lymphocytes (103/μL) | 1.6 | 1.5 | 1.5 | 1.3 | 1.6 | 2.7 | 1 | 1.3 | 1.9 | 0.9 |
| CD4+ T cells (/μL) | 850 | NA | NA | 726 | 818 | NA | NA | 710 | 1103 | NA |
| CD8+ T cells (/μL) | 332 | NA | NA | 1462 | 838 | NA | NA | 475 | 442 | NA |
| CD16+CD56+ NK cells (/μL) | 166 | NA | NA | 190 | 229 | NA | NA | 55 | 62 | NA |
| CD19+ B cells (/μL) | 351 | NA | NA | 64 | 240 | NA | NA | 0 | 3 | NA |
F, Female; HIgM, hyper-IgM syndrome; IgAD, selective IgA deficiency; ILD, interstitial lung disease; M, male; NA, not available; NK, natural killer; SARS-CoV-2, severe acute respiratory syndrome coronavirus 2; XLA, X-linked agammaglobulinemia.
*
Genetic analysis failed to amplify exon 1 of AICDA.
†
Diagnosis confirmed by flow cytometry.
‡
No previous history of pneumonia at the time of study participation, but patient died because of respiratory failure in the context of SARS-CoV-2 pneumonia.