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Primary Immunodeficiency

How to Approach by

Supapat Bunyaratavej, M.D.

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Table of contents

Who should be suspected to have primary immunodeficiency ?

What type of immunodeficiency ?

How to investigate ? How to management ?

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Warning Sign of Primary Immunodeficiency

Disorders

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Warning Sign of Priamary Immunodeficiency

Disorders

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Warning Sign of Priamary Immunodeficiency

Disorders

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Warning Sign of Priamary Immunodeficiency

Disorders

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Warning Sign of Primary Immunodeficiency

Disorders Physical Examination

Failure to thrive

Absent lymph node or tonsils Skin lesion : Telangiectasia, Petechiae, Dermatomyositis or lupus

like skin lesion

Oral thrush > 1 y/o Ataxia

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Table of contents

Who should be suspected to have primary immunodeficiency ?

What type of immunodeficiency ?

How to investigate ? How to management ?

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Clinical Finding in the Major Subgroups of

Primary Immunodeficiency Disorder Disorder of humoral immunity

Onset : After 6 mo., can present in adulthood

Pattern of infection : Encapsulated bacteria e.g. pneumococci, Haemophilus influenzae

Giardia lamblia,

Cryptosporidium Other features : Recurrent infection of sinopulmonary system e.g.

bronchiectasis, otitis media. Chronic GI problem include

malaborption, autoimmunity, Postvaccination paralytic polio

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Clinical Finding in the Major Subgroups of

Primary Immunodeficiency Disorder Disorder of T-cell or combined T-cell and B-cell

Onset : Before 6 mo.

Pattern of infection : Mycobacterium spp. CMV, EBV, varicella, Enterovirus

Candida, PCP

Other features : Failure to thrive, oral thrush, Graft versus host

disease from maternal lymphocyte, excess diarrhea,

Postvaccination disseminated bacille Calmette-Guerin infection or

paralytic polio

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Clinical Finding in the Major Subgroups of

Primary Immunodeficiency Disorder Disorder of phagocytic disorder

Onset : Infancy or childhood

Pattern of infection : Staphylococcus aureus, Pseudomonas spp. Serratia spp., Klebsiellla

spp.

FUNGUS : Candida,

Aspergillus, Norcardia Other features : Granuloma formation e.g. granuloma enteritis,

Poor wound healing, Abscess formation, Oral cavity or anorectal

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Clinical Finding in the Major Subgroups of

Primary Immunodeficiency Disorder Disorder of complement disorder

Onset : any age

Pattern of infection : Neisseria meningitidis and gonorrhea Other features : Rheumatoid, Lupus like syndrome, scleroderma

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Selected Primary Immunodeficiency Disorders

Disorder of humoral immunity

Common variable immune deficiency (CVID)

Selective IgA deficiency x-linked agammaglobulinemia

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Selected Primary Immunodeficiency Disorders

Disorder of T-cell or combined B-cell and T-cell

Severe combined immunodeficiency (SCID)

DiGeorge syndrome Wiskott-Aldrich syndrome

Ataxia-telangiectasia

X-linked hyper IgM

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Selected Primary Immunodeficiency Disorders

Disorder of phagocytic activity

Chronic granulomatous disease (CGD)

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Ataxia - Telangiectasia

This patient was diagnosed with

ataxia telangiectasia when she

presented at age 6 years. The

family was concerned about the

increased frequency of sinusitis

during the past winter, and she

was noted to have poor balance.

Findings in her eyes had beenexplained as conjunctivitis since

age 4 years

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DiGeorges syndrome

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Wiskott Aldrich syndrome

This 1-year-old boy was

hospitalized because of respiratory

syncytial virus bronchiolitis but

was noted to have eczema and

petechiae (note arrow). His history

was significant for a subdural

hematoma for which trauma wasdenied; at that time the platelet

count was 212,000

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Table of content

Who should be suspected to have primary immunodeficiency ?

What type of immunodeficiency ?

How to investigate ? How to management ?

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Initial Screening Assays

CBC, PBS

Serum immunoglobulin levels : IgM, IgG, IgA, IgD, IgE

Together with history and physical examination, these tests will

identify more than 95 % of patients with primary immunodeficiency

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Other readily available assays

Quantification of blood mononuclear cell populations by

immunofluorescence assays employing monoclonal antibody

markers T cell : CD3, CD4, CD8, TCR alpha beta , TCR gamma delta

B cell : CD19, CD20, CD21, Ig

Activation marker : HLA-DR, CD25, CD80 (B cell), CD154 (T cell) NK cells : CD16/CD56

Monocyte : CD15

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Other readily available assays

T cell function evaluation Delayed hypersensitivity skin test (PPD, Candida, Tetanus toxoid)

Proliferative response to mitogen and allogeneic cells cytokine production

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Other readily available assays

B cell function evaluation Natural or commonly acquired antibodies : e.g. antibodies to common

virus (influenza, rubella) and bacterial toxin (diptheria, tetanus) Response to immunization with protein (TT) and carbohydrate

(pneumococcal vaccine, H. influenzae B vaccine)

Quantitative IgG subclass determination

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Other readily available assays

Complement CH50 (classic and alternative pathway)

C3 , C4 and other complement Phagocyte function

Reduction of nitroblue tetrazolium

Chemotaxis assays Bactericidal activity (Neutrophil oxidation burst)

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Intravenous Immunoglobulin

IvIg is now standard treatment for most antibody deficiency X-linked agammaglobulinemia

CVID X-linked hyper IgM

SCID

Wiskott-Aldrich syndrome

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Cautions of vaccines and blood products

Blood products should be come from CMV negative donors, and

be filtrated to remove WBC and be irradiated to preveng GVHD

Avoid live attenuated vaccine such as varicella, Polio, MMR Patients with IgA deficiency should be infomed about serious

reaction of blood transfusion

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Antibiotics prophylaxis and vaccination

Antibiotics Prophylaxis : may be useful

Cotrimoxazole 5mg/k.g po bid reduced incidence of severe

infection around 50% in CGD

Immunization of encapsulated bacteria e.g. S. pneumoniae,

Haemophilus influenzae type b in complement deficiency

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