36 Patients with Immunodeficiency Flashcards
Elements compromised in immunodeficiency
Absence/malfunction of: bone marrow precursor stem cells blood cells soluble molecules signaling DNA repair mechanisms
When to suspect immunodeficiency
1 Unusual, chronic, recurrent infections (>1 bacterial systemic infection, >2 serious respi/bacterial infection in 1 year)
2 Serious infections at unusual sites
3 Infections with unusual pathogens
4 Infections with common pathogens but unusual severity
Usual clinical features
Recurrent respi infections
Severe bacterial infections
Persistent infections with incomplete or no response to therapy
Paucity of lymph nodes
Often clinical features
Persistent sinusitis/mastoiditis Recurrent bronchitis/pneumonia/ bronchiectasis Failure to thrive/growth retardation Intermittent fever Skin lesions (rashes, eczema, alopecia) Recalcitrant thrush Diarrhea and malabsorption Arthralgia Autoimmunity
Occasional clinical features
lymphadenopathy hepatosplenomegaly severe viral diseases deep infections (cellulitis, organ abscess, osteomyelitis) adverse rxns to vaccines delayed umbilical cord detachment
HPI
1 Respi infections: chronic and lead to complications; do not completely clear or respond bad; severe; opportunistic organisms
2 Failure to thrive in children, with or without chronic diarrhea
3 Prolonged diarrhea, malabsorption, vomiting, chronic gum infection
PMH
1 Maternal illness during pregnancy (HIV, rubella)
2 Diseases that can cause immunodeficiencies (diabetes, cancer)
3 Medications (steroids)
4 Adverse rxn to blood/plasma transfusion
5 Adverse rxn to live vaccines
6 Gestational age and birth weight (<32 AOG IgG)
7 Need for repeated antibiotics
Family history
1 Inherited as X-linked/autosomal recessive inherited traits
2 Early infant deaths, recurrent/chronic infections, lymphoreticular malignancies/autoimmune disorders
3 Racial background
Other factors in history
Infections (HIV) malnutrition extremities in age post-surgery and trauma immunosuppressant drugs (steroids, cyclosporine, chemo) genetic and metabolic diseases environmental stresses
Integument features
Wiskott-Aldrich Syndrome: eczema, smaller and fewer platelets, recurrent infections
Chediak-Higashi: sparse/hypopigmented hair, oculo-cutaneous albinism
T/B cell defect: eczema
Severe dermatitis: SCID, omenn syndrome
recurrent skin infections: LAD, hyper IgE syndrome
oral/nail candidiasis: t-cell defect, mucocutaneous candidiasis
sparse/hypopigmented hair: cartilage hair hypoplasia
ocular telangiectasia: ataxia-telangiectasia
oral ulcers: hyper IgM
periodontitis, stomatitis, gingivitis, dental decay: neutrophil defect
extremities and skeletal features
extremities: clubbing and arthritis
skeletal: short limb dwarfism (T/B cell deficiency), bony dysplasia (SCID, ADA deficiency)
endocrine features
hypothyroidism (DiGeorge syndrome)
GH deficiency: X-linked agammaglobulinemia
gonadal dysgenesis: mucocutaneous candidiasis
hematologic features
anemia, pallor
small platelets
neutropenia
Lab tests
CBC and differential count
normal absolute lymphocyte count: T-cell defect
normal absolute neutrophil count: congenital/acquired neutropenia or LAD
normal platelets: wiskott-aldrich syndrome
no howell-jolly bodies: asplenia
ESR
Screening test for B cell
serum immunoglobulins (IgG/M/A) isohemagglutinins antibody titers (diphtheria, tetanus, h. influenzae, pneumococcus) response to immunization IgG subclasses
