Predominantly antibody deficiency | | | | | | | | | | |
X-linked agammaglobulinemia (BTK) | – | + | + | + | ↓ | ↓ | ↓ | ↓ | – | Bacteria, Giardia lamblia |
Autosomal recessive(AR) agammaglobulinemia | | | | | | | | | | |
l5, Iga, Igb, or BLNK deficiency | – | + | + | + | ↓ | ↓ | ↓ | ↓ | – | Bacteria |
Hypogammaglobulinemia (AR) ICOS, CD19, CD21, BAFF-R | – | + | + | + | ↓ | ↓ | ↓ | ↓ | – | Bacteria |
Transient hypogammaglobulinemia of infancy | + | + | + | + | N/↓ | N/↓ | N/↓ | N/↓ | +/– | Bacteria |
Selective IgA deficiency | + | + | + | + | N | N | ↓ | N | +/– | Bacteria, G. lamblia |
Common variable immune deficiency | + | + | + | + | N/↓ | ↓ | ↓ | ↓ | – | Bacteria, G. lamblia |
IgG subclass deficiencies | + | + | + | + | N | N/↓ | N/↓ | N | +/– | Bacteria |
Hyper-IgM syndrome | | | | | | | | | | |
Activation-induced cytidine deaminase deficiency | + | + | + | + | N/↑ | ↓ | ↓ | ↓ | +/– | Bacteria |
Uracil-DNA glycosylase deficiency | + | + | + | + | N/↑ | ↓ | ↓ | ↓ | +/– | Bacteria |
X-linked CD40 ligand deficiency | + | + | + | + | N/↑ | ↓ | N/↓ | | +/– | Bacteria, viruses, fungi |
CD40 deficiency | + | + | + | + | N/↑ | ↓ | N/↓ | ↓ | +/– | Bacteria, viruses, fungi |
X-linked IKK-g (NEMO) deficiency | + | + | + | + | N/↑ | ↓ | ↓ | ↓ | +/– | Bacteria, viruses, fungi |
Severe combined immunodeficiency (SCID) | | | | | | | | | | |
Interleukin receptor g-chain deficiency (X-linked SCID) | + | – | – | – | N | ↓ | ↓ | ↓ | – | Bacteria, viruses, fungi |
Janus-associated kinase 3 (JAK3) deficiency | + | – | – | – | N | ↓ | ↓ | ↓ | – | Bacteria, viruses, fungi |
Interleukin-7 receptor a-chain deficiency | + | – | – | – | N | ↓ | ↓ | ↓ | – | Bacteria, viruses, fungi |
Zap-70 tyrosine kinase deficiency | + | +/– | + | – | N | N/↓ | N/↓ | N/↓ | +/– | Bacteria, viruses, fungi |
Adenosine deaminase (ADA) deficiency | – | – | – | – | ↓ | ↓ | ↓ | ↓ | – | Bacteria, viruses, fungi |
Purine nucleotide phosphorylase (PNP) deficiency | + | – | + | – | N | ↓ | ↓ | ↓ | +/– | Bacteria, viruses, fungi |
Recombinase activating gene (RAG 1/2) deficiency | – | – | + | – | ↓ | ↓ | ↓ | ↓ | – | Bacteria, viruses, fungi |
Artemis deficiency | – | – | + | – | ↓ | ↓ | ↓ | ↓ | – | Bacteria, viruses, fungi |
Reticular dysgenesis (AK2 deficiency) | – | – | – | – | ↓ | ↓ | ↓ | ↓ | – | Bacteria, viruses, fungi |
Primary T-cell deficiency | | | | | | | | | | |
Congenital thymic aplasia (DiGeorge syndrome) | + | – | + | – | N | N | N | N | +/– | Bacteria, viruses, fungi |
Major histocompatibility complex (MHC) class II deficiency | + | +/– | + | + | N | ↓ | ↓ | ↓ | +/– | Bacteria, viruses, fungi |
Transport-associated protein (TAP)-1 or TAP-2 deficiency (MHC class I deficiency) | + | +/– | + | – | N | N | N | N | + | Bacteria, viruses, fungi |
Th1 deficiency | | | | | | | | | | |
Interferon-g and interferon-g receptor deficiency | + | + | + | + | N | N | N | N | + | Mycobacteria, Salmonella |
Interleukin-12 and interleukin-12 receptor deficiency | + | + | + | + | N | N | N | N | + | Mycobacteria, Salmonella |
Other well-defined immunodeficiency syndromes | | | | | | | | | | |
Ataxia-telangiectasia | + | + | + | + | N/↑ | N/↓ | N/↓ | ↓ | +/– | Bacteria |
Wiskott-Aldrich syndrome | + | +/– | + | +/– | ↓ | N | ↑ | ↑ | +/– | Bacteria |