Transient hypogammaglobulinemia infancy
When it takes longer than expected for a baby to make their own IgG antibodies, they may have transient hypogammaglobulinemia of infancy (THI).
STAT1 and STAT3 gain of function
STAT1 and STAT3 gain of function are autosomal dominant primary immunodeficiencies with significant autoimmunity as a result of immune dysregulation.
Specific antibody deficiency
Individuals with specific antibody deficiency have normal levels of antibodies (immunoglobulins) but cannot produce antibodies to specific types of microorganisms that cause respiratory infections.
Selective IgM deficiency
Individuals with selective IgM deficiency have low levels or lack immunoglobulin M (IgM) but have normal levels of IgA, and IgG. These individuals may have no illness, whereas others develop a variety of illnesses, including infections, allergies, and autoimmunity.
Primary immune regulatory disorders (PIRD)
Primary immune regulatory disorders (PIRD) are characterized by a disturbance of immune tolerance and excessive inflammation.
IPEX syndrome
IPEX is an X-linked disorder in which affected boys develop severe autoimmunity that can target any organ. The gut, skin, and endocrine organs—particularly the pancreas and thyroid gland—are the most common targets.
Innate immune disorders
Innate immune disorders include Myd88 and IRAK-4 deficiencies, TLR3 deficiency, NF-kappa-B essential modulator (NEMO) deficiency syndrome, natural killer (NK) cell deficiency, and disorders in interferon-γ (IFN-γ) and interleukin (IL)-12/23 signaling pathways.
CTLA-4 haploinsufficiency and LRBA deficiency
Variants in the genes encoding cytotoxic T lymphocytic antigen-4 (CTLA4) and lipopolysaccharide responsive beige-like anchor (LRBA) can cause immune dysregulation. This means the components of the immune system regulating inflammation, autoimmunity, and cancer lose their proper function, leading to an array of autoimmune disorders and infections.
Autoimmune lymphoproliferative syndrome (ALPS)
ALPS is a rare genetic disorder in which lymphocytes, a type of white blood cell, increase and accumulate in the spleen and lymph nodes. This is due to the failure of the mechanism that normally causes lymphocytes to die naturally.
Combined immune deficiency (CID)
Combined immune deficiencies (CID) are a group of primary immunodeficiencies in which both T cells and B cells of the adaptive immune system are either low or function poorly.
