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Table 1. Characteristic Clinical Presentations of Some
Immunodeficiency Disorders
Diagnosis Symptoms and/or clinical presentation
Combined Immunodeficiencies
SCID
Failure to thrive, diarrhea, severe/disseminated infections,
opportunistic infections, rash; abnormal newborn screen
a
CD40L deficiency Recurrent serious pyogenic infections, opportunistic
infections (PCP)
Immunodeficiency syndromes
WAS rombocytopenia with bleeding and bruising, eczema,
recurrent infection with encapsulated organisms,
autoimmunity
AT Chronic sinopulmonary disease, cerebellar ataxia,
oculocutaneous telangiectasia, malignancy
DGS Hypocalcemic seizures caused by hypoparathyroidism, cardiac
disease, abnormal facies, infection, abnormal newborn screen
a
Antibody deficiency Recurrent sinopulmonary infections with encapsulated
bacteria, recurrent viral respiratory tract and
gastrointestinal infections
Immune dysregulation Autoimmunity, lymphoproliferation, HLH
Phagocytic cell defects
CGD Deep-seated infection, abscess with granuloma formation
LAD
Recurrent serious bacterial infections, delayed separation of
the umbilical cord; poor wound healing, lack of pus
HIES type 1 Chronic dermatitis, recurrent serious infection of the lungs
with pneumatoceles; skin infections, bone fragility, failure to
shed primary teeth
MSMD Severe mycobacterial and Salmonella species infections
