Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency (PI) that causes bleeding problems and eczema in addition to susceptibility to infections. It is inherited in an X-linked recessive manner.

Warts, hypogammaglobulinemia, immunodeficiency, myelokathexis (WHIM) syndrome is an ultra-rare and difficult-to-diagnose primary immunodeficiency (PI) in which individuals are susceptible to life-threatening bacterial infections and to human papillomavirus (HPV) infections.

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 are autosomal dominant primary immunodeficiencies with significant autoimmunity as a result of immune dysregulation.

Individuals with specific antibody deficiency have normal levels of antibodies (immunoglobulins) but cannot produce antibodies to specific types of microorganisms that cause respiratory infections.

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) are characterized by a disturbance of immune tolerance and excessive inflammation.

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 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.