TABLE 2.
Gene variants identified - 125 subjects (31% of the group).
| Gene variants | Number | Name | Inheritance |
|---|---|---|---|
| TNFRSF13B a | 42 | Transmembrane Activator and CAML Interactor | AD |
| NFKB1 | 16 | Nuclear Factor Kappa B Subunit 1 | AD |
| NFKB2 | 7 | Nuclear Factor Kappa B Subunit 2 | AD |
| IRF2BP2 | 6 | Interferon regulatory factor-2 binding protein | AD |
| CTLA4 | 6 | Cytotoxic T-Lymphocyte Associated Protein 4 | AD |
| IKZF1 | 6 | IKAROS Family Zinc Finger 1 | AD |
| TCF3 | 5 | Transcription Factor 3 | AD |
| BACH2 | 5 | BTB Domain and CNC Homolog 2 | AD |
| KMT2D | 4 | Lysine Methyltransferase 2 | AD |
| STAT3 | 3 | Signal Transducer And Activator Of Transcription 3 | AD |
| PIK3CD | 3 | Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta | AD |
| LRBA | 3, compd het | LPS Responsive Beige-Like Anchor Protein | AR |
| CXCR4 | 3 | C-X-C Motif Chemokine Receptor 4 | AD |
| DiGeorge 22q11 or TBX1 | 3 | DiGeorge syndrome | AD |
| WAS | 2 | Wiskott Aldrich syndrome | XL |
| RAG1/RAG2 | 2 | Recombination Activating Genes 1/2 | AR |
| AICDA | 1, homozygous | Activation induced cytidine deaminase | AR |
| STXBP2 | 1, compd het | Syntaxin Binding Protein 2 | AR |
| PMM2 | 1, compd het | Phosphomannomutase | AR |
| PIK3R1 | 1 | Phosphoinositide-3-Kinase Regulatory Subunit 1 | AD/AR |
| LIG4 | 1 homozygous | DNA Ligase 4 | AR |
| JAK1 | 1 | Janus Kinase 1 | AR |
| IKBKG | 1 | Regulatory gamma subunit of the IKB kinase (IKK) | XL |
| TBX1 | 1 | T-box protein 1 | AD |
| PMS2 | 1, compd het | PMS1 Homolog 2, Mismatch Repair System | AR |
| FOXP3 | 1 | Fork-winged helix family | XL |
| LIG1 | 1, compd het | DNA Ligase 1 | AR |
| CIITA | 1, compd het | Master regulator of MCH class II gene transcription | AR |
| BTK | 1 | Bruton Tyrosine Kinase | XL |
| ADA2 | 1 | Adenosine deaminase 2 | AR |
| CD40L | 1 | CD40 Ligand | XL |
| RTEL1 | 1, compd het | regulator of telomere elongation helicase 1 | AR |
a
Includes compound heterozygous mutations in 4; homozygous mutations in one; 8 of these also had an additional deleterious mutation in TBX1, TCF3, IL10RA, NFKB2, NBAS, or a DiGeorge chromosome loss; AD , autosomal dominant; AR , autosomal recessive; XL = X linked.