Types of PI

Primary Immunodeficiency (PI) is an umbrella term for over 300 genetic defects and disorders of the immune system recognized by the World Health Organization. Together they affect approximately 29,000 Canadians. Primary Immunodeficiency is not considered a rare disease as a category, but each individual form of PI is rare.

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There are currently 49 names in this directory
ADA-SCID
Adenosine deaminase deficiency (also called ADA deficiency or ADA-SCID) is an autosomal recessive metabolic disorder that causes immunodeficiency. It occurs in fewer than one in 100,000 live births worldwide. It accounts for about 15% of all cases of severe combined immunodeficiency (SCID). ADA-SCID is a rare disease in which patients cannot make lymphocytes (a type of white blood cell) and, as a result, have a severely deficient immune system. A faulty gene inherited from both parents stops production of an essential protein called adenosine deaminase (ADA), which is particularly important for the formation of lymphocytes and a functioning immune system. Children born with ADA-SCID have an impaired ability to fight off everyday infections resulting in severe and life-threatening illness. They rarely survive beyond 1-2 years unless immune function is restored. Patients with ADA-SCID initially take antibiotics and antifungal treatments to help protect themselves from serious infections, but most require a bone marrow transplant from a matched donor. However, the effectiveness of these transplants is highly dependent upon how close the match is between donor and patient. If no suitable donors are available, gene therapy, if approved, will provide another option. Credits: Immune Deficiency FoundationGenetics Home Reference

Antibody Deficiency with Normal/Elevated Immunoglobulins
This one of the various antibody deficiency disorders. Individuals with antibody deficiencies tend to get upper respiratory infections or infections of the sinuses or lungs (eg. streptococcus pneumonia, hemophilus influenzae). Those with Antibody Deficiency with Normal/Elevated Immunoglobulins have severe infections similar to patients with Common Variable Immunodeficiency (CVID), but their immunoglobulin levels are normal/elevated. Credits: Immune Deficiency Foundation

Ataxia-Telangiectasia
Ataxia-Telangiectasia (A-T) is a condition that affects multiple body systems. People with A-T have an unsteady, wobbly gait (ataxia) which worsens with age. Typically, they require a wheelchair for mobility by adolescence. Individuals with A-T have dilated, corkscrew-shaped blood vessels called "telangiectasia" on the whites of the eyes and certain areas of skin. A major symptom is a deficient immune system, often making those with A-T susceptible to lung infections. Individuals with A-T also have higher chances of getting cancer, particularly lymphoma, and leukaemia. The condition occurs in 1 in 40,000 to 100,000 people worldwide. Credits: Immune Deficiency FoundationGenetics Home Reference

Autosomal Recessive Agammaglobulinemia (ARA)
Autosomal Recessive Agammaglobulinemia is similar to the primary immunodeficiency X-LA (X-Linked Agammaglobulinemia). X-LA is an X-linked disorder, meaning only males are affected. Immunologists have found a condition similar to X-LA in females, so they referred to it as autosomal recessive agammaglobulinemia. Due to the lack of antibodies, individuals with ARA are prone to infections, especially of the middle ear (otitis), sinuses (sinusitis), and lungs (pneumonia, bronchitis). Individuals with ARA can also experience gastrointestinal infections, skin infections, and possibly infections that can involve the bloodstream or internal organs. There is no way to cure individuals who have agammaglobulinemia. They can be treated through intravenous or subcutaneous immunoglobulin transfusion. The immunoglobulin will supply them with more antibodies, and help them fight off infections. Credits: Immune Deficiency Foundation, Genetics Home Reference

B-actin Deficiency
β-actin Deficiency coincides with poor granulocyte movement (chemotaxis) and recurring infections. β-actin is a protein that allows cell movement. Some individuals that suffer from this condition, along with other chemotactic disorders, suffer from early tooth loss and severe gum infection (periodontitis). Credits: Immune Deficiency Foundation, Genetics Home Reference

Cartilage Hair Hypoplasia
Cartilage Hair Hypoplasia is an autosomal recessive immunodeficiency. The main symptoms of the condition of short stature (dwarfism), skeletal abnormalities, sparse hair, and a deficient immune system. The deficiency of the immune system can vary with individuals, from mild to severe; at times, the intensity can be compared to Severe Combined Immunodeficiency (SCID). Those with CHC can have gastrointestinal problems and a higher risk at developing cancer. CHC is most common in the Old Order Amish population and people of Finnish descent; for the former, CHC affects 1 in 1,300 newborns and 1 in 20,000 for the latter. Credits: Immune Deficiency Foundation, Genetics Home Reference

Chediak Higashi
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder. The disorder affects many areas of the body, especially the immune system. Infants and children with the disorder have persistent, severe, and sometimes life-threatening infections. Other major symptoms include oculocutaneous albinism (light skin, hair, and eyes), photophobia (sensitivity to light), and abnormal bleeding due to issues with blood clotting. Later in life, individuals with CHS can have issues with their nervous system, resulting in weakness, clumsiness, and seizures. There is no specific treatment for CHS, although bone marrow transplants have been observed as successful for certain individuals. The condition is very rare. Credits: Immune Deficiency Foundation, Genetics Home Reference

Chronic Granulomatous Disease
Chronic Granulomatous Disease (CGD) results in a deficient immune system, making them susceptible to infections. Individuals with CGD get too many immune cells that form “knots” (granulomas). Individuals with CGD experience chronic inflammation, even when no infection is present. The inflammation can cause symptoms like bladder and kidney problems, pain, and diarrhea. CGD is estimated to occur in approximately 1 in 200,000 to 250,000 people worldwide. Credits: Immune Deficiency Foundation, Genetics Home Reference

Chronic Mucocutaneous Candidiasis
Chronic Mucocutaneous Candidiasis (CMC) is a condition that results in persistent Candida (fungal infection) of the mucous membranes, scalp, nails, and skin. CMC is hereditary and presents itself soon after birth with frequent cases of oral candida (thrush). CMC occurs because of an individual's selective T-cell deficiency to Candida and related fungi. Some individuals with CMC are at risk of developing a more severe condition, systemic candidiasis, which infects the bloodstream. Systemic candidiasis can be life threatening. CMC requires lifelong antifungal medicines as treatment. The number of those dealing with CMC is currently unknown, however the condition is considered to be rare. Credits: Immune Deficiency Foundation, Genetics Home Reference

Comel-Netherton Syndrome
Comel-Netherton Syndrome is a condition that affects an individual's skin, hair, and immune system. Newborns with the condition typically have ichthyosis (scaly skin), bamboo-like hair (thin, tubular and fragile), high risk of bacterial infections, and fail to thrive (have difficulty growing and gaining weight). The deficient immune system can result in various problems like food allergies, asthma, and eczema. The syndrome is estimated to occur in 1 out of 200,000 newborns. Credits: Immune Deficiency Foundation, Genetics Home Reference

Complement Deficiencies
Complement is the term used to describe a group of serum proteins that are critically important in our defense against infection. Complement deficiencies vary depending on the protein affected (eg. C2 deficiency). The complement system involves more than 30 proteins. Symptoms of complement deficiencies can be recurrent mild/severe bacterial infections and autoimmune disease. Individuals can suffer from angioedema (swelling under the skin), which does not respond to antihistamines or epinephrine. Symptoms may vary depending on the type of complement deficiency. Individuals with a family history of these symptoms should be carefully observed. It is likely that they have inherited the autosomal co-dominant condition. Credits: Immune Deficiency Foundation

CVID
Common Variable Immune Deficiency (CVID) is one of the most frequently diagnosed primary immunodeficiencies. Individuals with CVID have low levels of serum immunoglobulins and antibodies, which makes them susceptible to infection. They are likely to suffer recurrent infections of the ears, sinuses, and lungs. The severity and the frequency of infections fluctuates with each individual case of CVID. CVID can also lead to higher chances of suffering other autoimmune disorders (Eg. Rheumatoid arthritis) and certain kinds of cancer. Signs of CVID can be found in both children and adults. CVID occurs in an estimate of 1 in 25,000 to 1 in 50,000 people worldwide. CVID can be treated with immunoglobulin replacement therapy to contribute more antibodies, while symptoms like chronic infections are treated with antibiotics. Credits: Immune Deficiency Foundation, Genetics Home Reference

Deficiencies of CD3 Chains
The condition Severe Combined Immunodeficiency can occur for many reasons; one of these reasons is the deficiency of CD3 Chains. Mutations in the genes that encode 3 individual protein on the T-cell receptor complex, CD3. Deficiencies of CD3 Chain are autosomal recessive traits. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. Credits: Immune Deficiency Foundation

Deficiency of CD45
Deficiency of CD45 is a catalyst for the condition SCID (Severe Combined Immunodeficiency). SCID occurs because of mutations in the genetic coding of the protein CD45, which is essential for T-cell function. This deficiency is an autosomal recessive trait. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. Credits: Immune Deficiency Foundation

Deficiency of Janus Kinase 3
The condition Severe Combined Immunodeficiency can occur for many reasons; one of these reasons is the deficiency of Janus Kinase 3. SCID occurs when there is a mutation in a gene that encodes the enzyme Janus kinase 3 (Jak3). It accounts for less than 10% of SCID cases. It is an autosomal recessive trait, so it can affect males and females. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. Credits: Immune Deficiency Foundation

Deficiency of the Alpha Chain of the IL-7 Receptor
Deficiency of the Alpha Chain of the IL-7 Receptor is another form of Severe Combined Immunodeficiency. This results from the gene mutation of the alpha chain of IL-7 receptor. It is the third most common cause of SCID and accounts for 11% of cases. It is inherited as an autosomal recessive trait, and both boys and girls can suffer from it. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. Credits: Immune Deficiency Foundation

DiGeorge Syndrome
DiGeorge Syndrome, otherwise known as 22q11.2 deletion syndrome, varies wildly between cases and can have a multitude of symptoms. Common symptoms are heart abnormalities, cleft palate, and distinctive facial features. Many individuals with DiGeorge Syndrome can have breathing problems, hearing loss, gastrointestinal issues, thrombocytopenia (decreased blood platelets), and developmental delays. A major symptom of DiGeorge Syndrome is the deficient immune system. Low T-lymphocyte production results in frequent infections. The syndrome occurs in an estimated 1 in 4,000 people. However, this estimate is assumed to be incorrect and the condition is believed to be underdiagnosed. Credits: Immune Deficiency Foundation, Genetics Home Reference

Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type Ib is a disorder that occurs due to a defect of the enzyme glucose-6 phosphate transporter 1 and an accumulation of glycogen in the liver. This condition results in a large liver and low blood sugar. It also results in neutropenia, which is a disorder defined by low numbers of granulocytes. Neutropenia can lead to infections of all kinds, including for the skin, mucus membranes, bones, lymphnodes, liver, spleen, and blood stream. Credits: Immune Deficiency Foundation

Griscelli Syndrome
Griscelli syndrome (GS) is a rare autosomal recessive disorder that results in hypopigmented (unusually light) skin and silvery hair. There are three forms of Griscelli Syndrome, but only GS type 2 is considered a primary immunodeficiency. Individuals with GS type 2 are susceptible to recurrent infections. They also develop the immune condition hemophagocytic lymphohistiocytosis (HLH), which can damage organs and tissues, possibly leading to life-threatening complications if ignored. A bone marrow transplant is required for survival. Griscelli Syndrome is a rare condition and the estimated frequency is unknown. However, GS type 2 is the most common of the three types. Credits: Immune Deficiency Foundation, Genetics Home Reference

Heavy Chain Deficiencies
Heavy Chain Deficiencies are when multiple genes that code for immunoglobulins (IgA, IgG1, IgG2, etc.) are missing from the body. Individuals with this condition can only make one or only a few types of immunoglobulin, which may result in a susceptibility to infections. However, it is possible for individuals with Heavy Chain Deficiencies to be asymptomatic. Credits: Immune Deficiency Foundation

Hoyeraal-Hreidarsson Syndrome (Dyskeratosis Congenita)
Hoyeraal-Hreidarsson Syndrome has X-linked inheritance and is a severe form of Dyskeratosis Congenita. Symptoms of the condition include poor growth inside the womb, microcephaly (small head), pancytopenia (low numbers of all blood cells), and decreased natural killer cells. Individuals with the condition are heavily susceptible to infections. Accurate diagnosis of Dyskeratosis Congenita is critical to ensure proper treatment, because patients who have DC do not respond to immunosuppressive therapy. Although the exact probability of Hoyeraal-Hreidarsson Syndrome is unknown, it is estimated that the more general condition Dyskeratosis Congenita occurs in approximately 1 in 1 million people. Credits: Immune Deficiency Foundation, Genetics Home Reference

Human Natural Killer Cell Deficiencies
Natural killer (NK) cells are innate immune cells that are significant in the killing of viral cells. These cells are especially significant in the defense against the herpes viruses, including Herpes simplex virus (oral and genital), Epstein-Barr virus (causing infectious mononucleosis), and the varicella virus (chicken pox and shingles). Individuals with Human Natural Killer Cell Deficiencies will be more vulnerable to these viruses. Human NK cell deficiencies are separated into two major categories of classical NK cell deficiency (quantitative defects) and functional NK cell deficiency (qualitative defects). Quantitative defects mean there is a decreased number of NK cells in the peripheral blood. Qualitative defects mean there are a normal number of NK cells in the blood, but they have abnormal function. Credits: Immune Deficiency Foundation

Hyper IgE Syndrome
Hyper IgE Syndrome, also known as Job syndrome, is a rare form of primary immunodeficiency. Major symptoms of the condition are frequent infections related to the lungs, inflammation, skin infections, and high levels of the immune system protein immunologlobulin E. Other symptoms relate to the bones and teeth, resulting in the possibility of skeletal abnormalities, scoliosis, and low bone density. Baby teeth also may not fall out to make room for the adult set of teeth. Hyper IgE Syndrome can be autosomal dominant (AD) or autosomal recessive (AR). The condition is estimated to affect less than 1 in a million people. Credits: Immune Deficiency Foundation

Hyper IgM Syndromes
Hyper IgM Syndrome (HIGM) is a result of decreased levels of the antibodies IgG and IgA, but a normal or increased level of IgM in blood. Individuals with Hyper IgM are susceptible to recurrent and severe infections. Most individuals with the syndromeare diagnosed within the first or second year of life. Pneumonia, sinusitis, and otitis (ear infection) are common infections for those with HIGM. Other common issues are chronic diarrhea, malabsorption of nutrients, and a failure to thrive (gain weight and grow). They are also at a higher risk of being diagnosed with cancer, specifically lymphoma. The most common form of the syndrome X-chromosome linked, meaning it is primarily found in males. X-linked Hyper IgM syndrome is estimated to occur in every 2 per million newborn males. Credits: Immune Deficiency Foundation, Genetics Home Reference

IgG Subclass Deficiency
The main immunoglobulin (Ig) in human blood is IgG. IgG is a combination of four subclasses: IgG1, IgG2, IgG3 and IgG4. When one or more of these subclasses is consistently low and total IgG is normal, then an individual has IgG Subclass Deficiency. IgG subclass deficiency is a controversial diagnosis and experts disagree about the findings of the condition. Individuals with any IgG subclass deficiency occasionally have recurrent respiratory infections, primarily Streptococcus pneumoniae and Haemophilus Influenzae. These infections may not be as severe as they are for individuals with primary immunodeficiencies like Agammaglobulinemia or Common Variable Immunodeficiency (CVID). Treatments for persistent IgG Subclass Deficiency include antibiotics and immunoglobulin replacement therapy. Many children outgrow the deficiency as they age. Credits: Immune Deficiency Foundation

Immunodeficiency with Centromeric Instability and Facial Anomalies
ICF syndrome is an inherited disorder passed down from both parents due to defects in the DNA methyl transferable gene DNMT3B. The disorder results in abnormal facial features, including large tongues (macroglossia). Individuals with ICF are susceptible to bacterial and opportunistic infections. Early treatment is ideal for individuals with ICF, because immunoglobulin supplementation can help with the development of the disease. For those who have severe infections or fail to thrive (gain weight, grow), allogeneic stem cell transplantation is recommended. Credits: Immune Deficiency Foundation

Immunodeficiency with Thymoma (Good’s Syndrome)
Immunodeficiency with Thymoma (aka. Good's Syndrome) is characterized by low immunoglobulins, along with a thymic tumor (thymoma). The condition is suspected when a thymic tumor is seen on a chest X-ray. Most patients with Good's Syndrome are adults with a history of recurrent infections. Removing the thymoma will not cure the immunodeficiency; however, may be an improvement for other symptoms.

IRAK4 Deficiency
IRAK4 Deficiency is an innate immune defect and inherited disorder. The condition leads to current pyogenic (pus-producing) bacterial infections. The infections are mostly caused by S. aureus, S. pneumoniae (pneumococcus) and Pseudomonas aeruginosa. These infections can be life-threatening when they occur during infancy. While the bacterial infections are recurring, individuals with the condition do not suffer from severe viral, fungal, or parasitic infections. IRAK4 Deficiency has similar symptoms to the primary immunodeficiency MyD88 deficiency. Like with MyD88 Deficiency, the health of individuals with IRAK4 Deficiency improves with age. The IRAK4 Deficiency is rare and the estimated frequency of the condition is unknown. Credits: Immune Deficiency Foundation, Genetics Home Reference

Kappa Chain Deficiency
Kappa Chain Deficiency is an autosomal recessive condition. It may result in a susceptibility to infection from reduced activation of B-cells to produce antibodies. However, it is also possible for patients to be asymptomatic. Credits: Immune Deficiency Foundation

Leukocyte Adhesion Deficiency
Individuals with LAD type 1 are susceptible to severe bacterial and fungal infections from birth. Symptoms of LAD type 1 are bacterial and fungal infections affecting the skin and mucous membranes; severe gingivitis and periodontitis leading to tooth loss; and wounds that are slow to heal. Leukocyte Adhesion Deficiency type 1 is a serious condition that can be life-limiting. LAD1 is by far the most common cause of leukocyte adhesion deficiency and it is usually corrected by bone marrow transplantation. There are milder forms of LAD1 that can be treated with antibiotics alone. LAD type 2 occurs with mutations in an enzyme that attaches fucose (a type of sugar) to proteins. LAD 2 can be treated by eating large quantities of fucose. LAD type 3 is caused by mutations in a gene called FERMT3. Credits: Immune Deficiency Foundation, Genetics Home Reference

MyD88 Deficiency
MyD88 (myeloid differentiation primary response protein 88) is a protein that allows the innate immune cell to function as normal. MyD88 deficiency is an inherited disorder where individuals suffer from recurrent and severe pyogenic (produces pus) bacterial infections. While individuals are susceptible to infections with S. pneumoniae, S. aureus, and P. aeruginosa, their immune systems could resist all other forms of bacteria, viruses, fungi, and parasites. It's been observed that the susceptibility to infection in general improved with age. The number of infections are reduced approximately around the age of 10. The estimated frequency of MyD88 Deficiency is unknown. Credits: Immune Deficiency Foundation, Genetics Home Reference

NEMO Deficiency Syndrome
The NEMO deficiency syndrome is caused by genetic mutations in the X-linked NEMO gene, also known as IKK gamma or IKKG. The condition is complex and can vary in severity in each case. The most common symptoms are skin disease and susceptibility to bacterial infections. Infections can manifest anywhere in the body, such as the lungs, skin, central nervous system, liver, and gastrointestinal tract. Treatment requires immunoglobulin replacement in order to boost antibodies, along with prophylactic antibiotics in order to prevent future infection. NEMO Deficiency Syndrome primarily occurs in males. The condition can be life-limiting, depending on the severity. Credits: Immune Deficiency Foundation

Post-Meiotic Segregation (PMS2) Disorder
PMS2 gene mutation results in defective Ig class switching from IgM to IgG and IgA. The condition leads to low serum IgG and IgA with elevation in serum IgM. A visible symptom of PMS2 Disorder are light-brown spots on the skin. Individuals with the condition have a higher risk of developing several kinds of malignancies. PMS2 Disorder is a very rare form of primary immunodeficiency. Credits: Immune Deficiency Foundation

Schimke Syndrome
Schimke Syndrome, also known as Schimke immuno-osseous dysplasia, is a very rare form of primary immunodeficiency. Signs of the syndrome are kidney disease, curvature of the lower back (lordosis), and hyperpigmentation. Individuals with Schimke Syndrome also have a shortage of T-cells, meaning their immune system is uanble to fight off infections. Another symptom is short stature; the typical adult height for someone with Schimke Syndrome ranges from 3 to 5 feet tall. The condition can be severe or mild, depending on the case and the symptoms. Individuals may not develop symptoms until late childhood. Schimke Syndrome is very rare and is estimated to only occur to 1 in 1-3 million people in North America. Credits: Immune Deficiency Foundation, Genetics Home Reference

Selective IgA Deficiency
Individuals with Selective IgA Deficiency immunoglobulin A, but have no other immunoglobulin deficiencies. Many of the individuals affected by Selective IgA Deficiency will show no signs of illness, while others can have multiple or serious symptoms. Individuals with Selective IgA Deficiency can be susceptible to infections, particularly of the ear, sinuses, and lungs (pneumonia, bronchitis). They can also have gastrointestinal infections and chronic diarrhea. A more serious symptom is the heightened probability of acquiring an autoimmune disease, such as rheumatoid arthritis, systemic lupus erythematosus, immune thrombocytopenic purpura, etc. Selective IgA Deficiency is one of the most common forms of PI. It has been noted to be relatively common in Caucasians; studies have indicated that as many as 1 in every 500 Caucasian people have the condition. Credits: Immune Deficiency Foundation

Selective IgM Deficiency
Selective IgM Deficiency is an antibody deficiency disorder. Individuals with Selective IgM Deficiency have low levels of the antibody IgM. Individuals with the condition have recurring (often severe) infections. The condition appears similar to Common Variable Immunodeficiency. At times, patients can be asymptomatic. Credits: Immune Deficiency Foundation

Specific Antibody Deficiency
Specific Antibody Deficiency (SAD) is sometimes called Partial Antibody Deficiency or Impaired Polysaccharide Responsiveness. Among the five classes of immunoglobulins: IgG, IgA, IgM, IgD, and IgE, IgG has the predominant role in protection against infection. Some individuals with Specific Antibody Deficiency have have normal levels of immunoglobulins and all forms of IgG, but do not produce sufficient specific IgG antibodies that protect from viruses and bacteria. Therefore, individuals with SAD experience recurrent otitis (ear infection), sinusitis, bronchitis, and pneumonia. The infections will not be as severe as the infections for individuals with X-linked Agammaglobulinemia or Common Variable Immune Deficiency (CVID). Credits: Immune Deficiency Foundation

Specific Granule Deficiency
Specific granule deficiency is extremely rare. The condition results in decreased granules within neutrophils. Neutrophils aid in fighting infection by going to the infection site and ingesting the organism, thereby killing the organism. Patients with Specific Granule Deficiency are at risk for bacterial and fungal infections. Credits: Immune Deficiency Foundation

TLR Deficiencies
Toll-like Receptors (TLRs) are proteins that send internal messages to the white blood cell to secrete cytokines, which stimulate the immune system. When the TLRs are defective, innate immune cells cannot kill invading microbes, leading to recurring infections. There are various disorders that are occur because of TLR Deficiency, such as MyD88 deficiency and IRAK-4 deficiency. Having the TLR Deficiency will result in a susceptibility to infections from bacteria and viruses. Credits: Immune Deficiency Foundation

Transcobalamin II Deficiency
Transcobalamin II Deficiency is a hereditary condition that impairs the transport of vitamin B12 within the body. The symptoms of the condition are anemia, low white cell count, and hypogammaglobulinemia. The condition also results in a failure to thrive (grow or gain weight). Transobalamin II Deficiency can be treated with B12 injections. The estimated frequency of the condition is unknown. Credits: Immune Deficiency Foundation, Genetics Home Reference

Transient Hypogammaglobulinemia of Infancy
THI is a condition diagnosed in infants over the age of 6 months who have significantly lower levels of IgG (antibody) than normal. The condition is not permanent and many infants are asymptomatic. However, lowered IgG levels could present a susceptibility to respiratory infections, allergic manifestations, gastrointestinal issues, ear/sinus infections, nasal/throat infections, and swollen glands. The infections should be treated with antibiotics and live viral vaccines should be avoided until the IgG levels improve. Individuals with THI typically develop regular levels of IgG by the age of 3. The condition is twice as likely to occur in males. The estimated frequency of the condition is unknown, but it is believed to be underdiagnosed. Credits: Immune Deficiency Foundation

UNC93B Deficiency and TLR3 Mutations
UNC93B1 Deficiency and TLR3 Mutations are innate immune defects. UNC93B1 is a signaling molecule involved in the production of interferon, which is significant in the killing of viruses. Signaling through TLRs 3, 7, 8, and 9 normally induces production of interferons. UNC93B1 Deficiency and TLR3 Mutations can make one susceptible to encephalitis (inflammation of the brain) caused by the herpes simplex virus (HSV-1). This susceptibility occurs because of the decreased production of interferons in the central nervous system. Credits: Immune Deficiency Foundation,

Unspecified Hypogammaglobulinemia
Unspecified Hypogammaglobulinemia is a dated term describing a patient with one or more deficiencies serum immunoglobulins. In some individuals, unspecified hypogammaglobulinemia could be a physiologic variant without significance; in other individuals it could indicate a developing immunodeficiency. In the case of the latter, the individual should be monitored, especially if the individual is developing recurring infections. Credits: Immune Deficiency Foundation

Veno-occulusive Disease
Hepatic veno-occlusive disease (VODI) is a very rare immunodeficiency. The disorder is hereditary, and leads to the impairment of both T-cells and B-cells. Along with a weakened immune system, the disorder also affects the liver. The condition can lead to the liver becoming enlarged (hepatomegaly) and building up scar tissue (hepatic fibrosis). At worst, it can lead to liver failure. IVIG treatment and prophylaxis for fungal infection are necessary after diagnosis. A liver transplant may be required, but there is a high risk of complications. VODI is so rare, only 20 affected families have been recorded worldwide. Most individuals with VODI have been of Lebanese descent. Credits: Immune Deficiency Foundation, Genetics Home Reference

WHIM Syndrome
WHIM Syndrome is an autosomal recessive disorder. WHIM stands for Warts, Hypogammaglobulinemia, Infection, Myelokathexis. The condition results in severe warts, recurring infections, and low immunoglobulins and low granulocytes (neutropenia). Myelokathexis is when bone marrow fails to release granulocytes into the body's blood stream. The treatment for the condition involves immunoglobulin replacement and granulocyte growth factor. Credits: Immune Deficiency Foundation

Wiskott-Aldrich Syndrome
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency that primarily affects males. The condition causes a poor immune system and abnormal bleeding from a reduced ability to form blood clots. The abnormal bleeding is a result of microthrombocytopenia, which is a decreased number and size of clotting blood cells. Individuals with WAS can usually be identified by three major symptoms: abnormal bleeding, recurrent infections, and eczema of the skin. Individuals with WAS are also at a higher risk of developing cancer (eg. Lymphoma). Symptoms of WAS can be treated with antibiotics and IVIG infusions, while ultimately gene therapy or a bone marrow transplant could cure their condition. Wiskott-Aldrich syndrome is estimated to occur between 1 and 10 cases per million males worldwide. Credits: Immune Deficiency Foundation, Genetics Home Reference

X-Linked Agammaglobulinemia
X-Linked Agammaglobulinemia (XLA), also called Bruton’s Agammaglobulinemia or Congenital Agammaglobulinemia, was first identified in 1952 by Dr. Ogden Bruton. Individuals with X-LA cannot produce antibodies. X-LA is found in approximately 1 in 200,000 newborns; the newborns with the condition are almost exclusively male. Due to the lack of antibodies, individuals with X-LA are prone to infections, especially of the middle ear (otitis), sinuses (sinusitis), and lungs (pneumonia, bronchitis). Individuals with XLA can also experience gastrointestinal infections, skin infections, and possibly infections that can involve the bloodstream or internal organs. There is no way to cure individuals who have agammaglobulinemia. They can be treated through intravenous or subcutaneous immunoglobulin transfusion. The immunoglobulin will supply them with more antibodies, and help them fight off infections. Credits: Immune Deficiency Foundation, Genetics Home Reference

X-linked Immune Dysregulation with Polyendocrinopathy (IPEX)
Individuals with IPEX have multiple autoimmune endocrine (hormone-related) conditions, such as diabetes and thyroid problems. IPEX also results in autoimmune conditions related to the intestines and the skin, resulting in chronic diarrhea, failure to gain weight, rashes and skin irritation. IPEX is an X-linked disease, so only males are affected. The condition is rare and the estimated percentage of individuals born with IPEX is unknown. It can be treated with immunosuppressive medications and a bone-marrow transplant. Credits: Immune Deficiency Foundation, Genetics Home Reference

X-SCID
X-SCID is the most common form of Severe Combined Immunodeficiency, the most serious case of primary immunodeficiency. X-SCID affects approximately 45% of all cases. The condition is an X-linked recessive trait, meaning that it primarily affects males. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. The exact frequency of the condition is unknown. It is estimated to affect 1 in 50,000 –100,000 newborns. Credits: Immune Deficiency Foundation, Genetics Home Reference
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