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Inborn Errors of Immunity are silent diseases. These conditions affect the immune system and often go unnoticed.

Our network connects you with specialized professionals to provide comprehensive care in these and other complex cases.

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Why focus on silent diseases?

These are rare, often underdiagnosed conditions that require specialized attention.

Immune-related conditions can manifest as recurrent infections, chronic inflammation, or immune dysregulation.

We provide clinical, psychological, and legal support, as well as guidance on accessing specialized medications.

Rare conditions we can support

Click on each box for more information:

Combined Immunodeficiencies (T & B cells) – e.g., SCID

Combined Immunodeficiencies with Syndromic Features – e.g., DiGeorge Syndrome

Predominantly Antibody Deficiencies – e.g., X-linked Agammaglobulinemia

Immune Dysregulation Disorders – e.g., IPEX Syndrome

Phagocyte Number or Function Defects – e.g., Chronic Granulomatous Disease

Autoinflammatory Diseases – e.g., Familial Mediterranean Fever

Complement System Deficiencies – e.g., C2 Deficiency

NK Cell Defects – e.g., Functional NK Cell Deficiency

Personalized guidance, care, and support

Experienced Immunology Doctors

Connect with professionals providing specialized clinical care, accurate diagnoses, and appropriate treatments.

Mental Health Professionals

Connect with psychologists for therapeutic support to help patients and families navigate the challenges of their journey.

Physical Therapy

Connect with physiotherapists for rehabilitation and tailored exercises promoting independence and overall well-being.

Legal Support

Guidance to access treatments via SUS, private health plans, and imported medications.

Medication Access via SUS

Support in obtaining essential treatments.

Most litigated medications in Brazil

We maintain an updated list of the most litigated medications in Brazil, including access information through SUS and private health plans.

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You don’t have to face this journey alone

Our network connects you with professionals and resources.

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Tell us about your needs, and our team will guide you to the most appropriate support.

Assessment & Connection

Initial guidance to identify needs, understand your case, and connect you with the right specialists.

Ongoing Care

Support at every stage, from diagnosis to treatment and long-term care, ensuring comprehensive attention.

Make a difference for those who need specialized care

Many people live with Inborn Errors of Immunity (IEI) and face daily challenges that require constant attention, specialized treatments, and multidisciplinary care.

Your support can provide hope, access to therapies, medical care, and emotional support for patients and families.

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Combined Immunodeficiencies (T and B Cells)

What it is

Severe combined immunodeficiencies (SCID) are a group of rare genetic disorders that severely compromise the immune system, affecting T and B lymphocytes. Affected individuals are highly susceptible to severe infections from the first months of life.

Genetic causes

Caused by mutations in various genes involved in T and B lymphocyte maturation and function, such as IL2RG, RAG1/RAG2, or ADA. Inheritance can be X-linked or autosomal recessive, depending on the gene affected.

Main symptoms

Recurrent and severe infections (bacterial, viral, and fungal), chronic diarrhea, growth failure, and lack of vaccine response. Without treatment, symptoms appear in the first months of life.

Diagnosis

Blood tests show absent or severely reduced T and B lymphocytes. Genetic testing confirms the mutation. Newborn screening via the heel-prick test is available in some countries.

Treatment

Bone marrow transplantation is the treatment of choice and can restore immunity. Enzyme therapy (for ADA-deficient SCID) is used in specific cases. Intravenous immunoglobulins and antimicrobial prophylaxis complement management. Research on immunobiologics aimed at stimulating immune function is ongoing.

Combined Immunodeficiencies with Syndromic Features

What it is

A genetic disorder characterized by mild to moderate combined immunodeficiency, associated with heart defects, facial abnormalities, and hypocalcemia.

Genetic causes

Caused by a deletion on chromosome 22q11.2, affecting the development of the thymus, heart, and face.

Main symptoms

Frequent infections, growth delay, congenital heart defects, altered palate, speech and learning difficulties.

Diagnosis

Genetic testing confirms the 22q11.2 deletion. Immunological evaluation shows variable T cell reduction. Cardiac and craniofacial assessments complement the diagnosis.

Treatment

Support with immunoglobulins when needed, prophylactic antibiotics, and multidisciplinary follow-up (cardiology, endocrinology, speech therapy). In severe cases, thymus transplantation may be considered. Research on specific immunobiologics remains experimental.

Predominantly Antibody Deficiencies

What it is

An immunological disorder characterized by an almost complete absence of antibodies, resulting in high susceptibility to recurrent bacterial infections.

Genetic causes

Caused by mutations in the BTK gene, located on the X chromosome, affecting B cell maturation.

Main symptoms

Recurrent respiratory and ear infections, chronic sinusitis, pneumonia, and persistent diarrhea. Some patients may exhibit growth delays.

Diagnosis

Blood tests show absence of immunoglobulins and circulating B cells. Genetic testing confirms the mutation.

Treatment

Regular intravenous or subcutaneous immunoglobulin prevents infections. Antimicrobial prophylaxis may be required. Specific immunobiologics are not routinely used, but research is exploring therapies that modulate B-T cell responses.

Immunoregulatory Disorders

What it is

A rare genetic disease characterized by dysregulation of the immune system, leading to early-onset severe autoimmunity.

Genetic causes

Mutations in the FOXP3 gene impair the function of regulatory T cells, which are essential for controlling immune responses.

Main symptoms

Neonatal type 1 diabetes, dermatitis, severe enteropathy (chronic diarrhea), autoimmune anemia, and multi-organ failure.

Diagnosis

Genetic testing confirms FOXP3 mutations. Detailed clinical evaluation identifies autoimmune manifestations.

Treatment

Bone marrow transplantation is the definitive treatment. Immunosuppressants and immunobiologics such as abatacept can help control autoimmunity prior to transplantation.

Phagocyte Number or Function Defects

What it is

A disorder that impairs phagocytes’ ability to destroy microorganisms, causing recurrent bacterial and fungal infections.

Genetic causes

Mutations in genes such as CYBB (X-linked) or NCF1 alter the production of reactive oxygen species needed to kill pathogens.

Main symptoms

Skin, lung, and lymph node infections, recurrent abscesses, and granulomas in organs.

Diagnosis

Functional tests of neutrophils (respiratory burst assay) and genetic testing confirm the diagnosis.

Treatment

Prophylactic antibiotics and antifungals are essential. Interferon-gamma therapy is used to enhance phagocyte function. Bone marrow transplantation may be considered in severe cases.

Familial Mediterranean Fever (FMF)

What it is

Familial Mediterranean Fever is a genetic autoinflammatory disorder that causes recurrent episodes of fever and inflammation in different parts of the body, particularly the abdomen, joints, and pleura. It is more common among individuals of Mediterranean descent (such as Sephardic Jews, Arabs, Turks, and Armenians).

Main symptoms

Sudden attacks of high fever, severe abdominal pain, chest pain, and painful joints are characteristic. Episodes typically last 1 to 3 days and recur periodically.

Diagnosis

Based on clinical history, family background, and exclusion of other causes of recurrent fever. Genetic testing confirms the presence of MEFV gene mutations.

Treatment

The first-line treatment is continuous use of colchicine, which prevents attacks and kidney complications. In refractory cases, biologic agents such as anakinra or canakinumab may be prescribed to reduce inflammation. Adherence to therapy ensures good quality of life.

Prognosis

Continuous colchicine therapy is essential to prevent attacks and complications, particularly renal amyloidosis. In selected cases, biologic medications may be required.

Complement System Deficiencies

What it is

A disorder that impairs complement system activation, increasing the risk of infections and autoimmune diseases.

Genetic causes

Mutations in genes encoding complement proteins, such as C2, result in the absence or dysfunction of essential components.

Main symptoms

Recurrent infections with encapsulated bacteria, autoimmune diseases such as lupus, fatigue, and, in some cases, kidney abnormalities.

Diagnosis

Laboratory tests assess complement activity, and genetic testing confirms the defect.

Treatment

Infection prevention through vaccination, prophylactic antibiotics, and, in some cases, immunobiologic therapies that modulate the autoimmune response.

Defects in NK Cells

What it is

A rare disorder that impairs the function of Natural Killer (NK) cells, which are essential for controlling viral infections and tumors.

Genetic causes

Mutations in genes regulating NK cell function result in cells unable to efficiently eliminate pathogens and malignant cells.

Main symptoms

Severe or recurrent viral infections, with an increased risk of lymphomas and virus-associated tumors.

Diagnosis

Functional NK cell tests and genetic analysis confirm the deficiency.

Treatment

Management includes close monitoring, prophylactic antivirals, and experimental immunobiologics, such as IL-2 or antibodies that stimulate NK cell function. Bone marrow transplantation may be considered in severe cases.