de Vries and Driessen reviewed clinical findings that may be clues to an underlying primary immunodeficiency.
Clinical history:
(1) recurrent bacterial infections
(2) >= 2 severe infections (pneumonia, sepsis, meningitis, osteomyelitis)
(3) atypical presentation of an infection
(4) unusually severe course for an infection
(5) poor response to appropriate therapy of a bacterial infection
(6) infection caused by an opportunistic pathogen
(7) recurrent infection with the same type of pathogen
(8) abscess of internal organs
(9) recurrent subcutaneous abscesses
(10) failure to thrive with prolonged or recurrent diarrhea
(11) generalized long-standing warts
(12) long-standing molluscacontagiosa
(13) prolonged candidiasis
(14) delayed separation of the umbilical cord (> 4 weeks)
(15) delayed shedding of the primary teeth
(16) family history of immunodeficiency
(17) family history of unexplained infant death
(18) consanguinity of parents
(19) difficult-to-treat obstructive lung disease and/or bronchiectasis
(20) atypical autoimmune disease
(21) atypical lymphoproliferation
Findings on the physical exam:
(1) dysmorphic facial features
(2) microcephaly
(3) partial albinism
(4) abnormal hair
(5) eczema
(6) telangiectasia
(7) ataxia
(8) gingivitis
(9) oral ulcers
(10) abnormal wound healing
(11) absence of lymph nodes and/or tonsils
(12) lymphadenopathy
(13) hepatosplenomegaly
(14) digital clubbing
(15) vasculitis
Laboratory Findings:
(1) unexplained or cyclic neutropenia
(2) hypo- or agammaglobulinemia
(3) unexplained atypical lymphocytosis
(4) elevated IgE or IgD concentrations
(5) complement deficiencies
