Immune Deficiency: Diagnostic Approach

Prof Ariyanto Harsono MD PhD SpA(K)

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Introduction

Immune disorders are oftentimes categorized as either congenital or acquired. When baby born with a disorder, it’s called a congenital or primary disorder. Acquired disorders are called secondary disorders. Secondary disorders are more common than primary

The immune system is made up of several organs including spleen, tonsils, bone marrow, and lymph nodes. These organs make and release lymphocytes, which are white blood cells classified as B cells and T cells. B and T cells fight invaders called antigens..

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Function of Major Immune Component

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Immune Deficiency

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Primary disorders can be controlled and treated, but not prevented. Secondary disorders can be prevented in a number of ways. For example, it is possible to avoid AIDS by not having unprotected sex with someone who carries the virus.

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Diagnosis steps

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Recognizing the Signs of an Immunodeficiency Disorder

Each disorder has unique symptoms. The first indicator that something is wrong with your immune system is becoming repeatedly and chronically sick, even with minor illnesses, including pinkeye, sinus infections, or diarrhea. If these problems don’t respond to treatment or don’t completely get better over time, doctor might test for a disorder. Recurrent pneumonia and yeast infections could also suggest you have a disorder.

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Recurrent oral thrush

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Advance Laboratory Examination

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Alternative Algorythm

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Specific Condition

Hyper IgE Syndrome

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Primary Immunodeficiency DiseaseAccording to the leading experts in immunology,

when part of the immune system is either absent or not functioning properly, it can result in an immune deficiency disease. When the cause of this deficiency is hereditary or genetic, it is called a primary immunodeficiency disease (PIDD). Researchers have identified more than 150 different kinds of PIDD.

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Severe Combined Immunodeficiency

Severe Combined Immunodeficiency (SCID) is a rare, inherited condition resulting in a weak immune system that is unable to fight off even mild infections. It is considered to be the most serious primary immunodeficiency disease (PIDD).

Prof DR.dr. Ariyanto Harsono SpAK

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X-Linked Agammaglobulinemia

X-Linked Agammaglobulinemia (XLA) is an inherited immunodeficiency in which the body is unable to produce the antibodies needed to defend against bacteria and viruses.

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Selective IgA Deficiency

Selective IgA Deficiency is the most common primary immunodeficiency disease (PIDD). People with this disorder have absent levels of a blood protein called immunoglobulin A (IgA). IgA protects against infections of the mucous membranes lining the mouth, airways and digestive tract.

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DiGeorge Syndrome

DiGeorge Syndrome (DGS) is a primary immunodeficiency disease(PIDD) associated with susceptibility to infections due to poor T cell production and function. DGS is caused by abnormal cell and tissue development during fetal growth. In addition to possible immune system problems, this abnormal development can result in altered facial characteristics, abnormal gland development or defects in organs such as the heart.

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DiGeorge Syndrome…..

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Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency disorder characterized in one third of patients by the triad of recurrent bacterial sinopulmonary infections, eczema (atopic like dermatitis), and a bleeding diathesis caused by thrombocytopenia and platelet dysfunction.

Wiskott Aldrich Syndrome

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Wiskott Aldrich Syndrome…

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Ataxia-telangiectasiaAtaxia-telangiectasia (A-T) is an autosomal

recessive, complex, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, x-ray hypersensitivity, ocular and cutaneous telangiectasia (see image below), and a predisposition to malignancy.

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Secondary Immunodeficiency Syndrome

Also called Acquired immunodeficiency may be a complication of diseases such as HIV infection and malnutrition. Many cancers may also cause immunodeficiency.

People who have had their spleen removed have an acquired immunodeficiency, and are at higher risk for infection by certain bacteria that the spleen would normally help fight. Patients with diabetes are also at higher risk for certain infections.

Clinical Features of secondary immune deficiency

• Syndromes• Failure to Thrive• Bacterial infection• Viral Infection• Opportunistic infection• Chronic diarrhea• Blood abnormality• Skin lesions

Prof DR.dr. Ariyanto Harsono SpAK

Prof DR.dr. Ariyanto Harsono SpAK

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Prof DR.dr. Ariyanto Harsono SpAK

Prof DR.dr. Ariyanto Harsono SpAK

Prof DR.dr. Ariyanto Harsono SpAK

Prof DR.dr. Ariyanto Harsono SpAK

Prof DR.dr. Ariyanto Harsono SpAK

Prof DR.dr. Ariyanto Harsono SpAK

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Prof DR.dr. Ariyanto Harsono SpAK

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Thank you