Resources on PID

Disease Contributors Clinical criteria for a probable diagnosis (= clinical diagnosis) Suggestions for alternative diagnosis (i.e. if these criteria are not completely fulfilled)
Agammaglobulinaemia Annarosa Soresina, Nizar Mahlaoui, Hans Ochs, Isabella Quinti Fewer than 2% circulating B cells (CD19 and CD20), preferably in two separate determinations and a normal number of T cells (CD3, CD4 and CD8)
AND serum IgG levels below: -200 mg/dl in infants aged < 12 months -500 mg/dl in children aged > 12 months
OR normal IgG levels with IgA and IgM below 2SD
AND onset of recurrent infections before 5 years of age
OR positive maternal family history of agammaglobulinaemia
For patients with normal B cells and agammaglobulinaemia, please consider “Unclassified antibody deficiency”.
Common variable immunodeficiency disorders (CVID) Vojtech Thon, Natalia Martinez, Maria Kanariou, Klaus Warnatz, Isabella Quinti, Helen Chapel At least one of the following:
• increased susceptibility to infection
• autoimmune manifestations
• granulomatous disease
• unexplained polyclonal lymphoproliferation
• affected family member with antibody deficiency
AND marked decrease of IgG and marked decrease of IgA with or without low IgM levels (measured at least twice; <2SD of the normal levels for their age);
AND at least one of the following:
• poor antibody response to vaccines (and/or absent isohaemagglutinins); i.e. absence of protective levels despite vaccination where defined
• low switched memory B cells (<70% of age-related normal value)
AND secondary causes of hypogammaglobulinaemia have been excluded
AND diagnosis is established after the 4th year of life (but symptoms may be present before)
AND no evidence of profound T-cell deficiency, defined as 2 out of the following (y=year of life):
• CD4 numbers/microliter: 2-6y <300, 6-12y <250, >12y <200
• % naive CD4: 2-6y <25%, 6-16y <20%, >16y <10%
• T cell proliferation absent
For patients <4 years old or patients with incomplete criteria please consider “Unclassified antibody deficiency”.
For patients with evidence of profound T-cell deficiency, please consider Combined immunodeficiencies.
IgA with IgG subclass deficiency Nizar Mahlaoui David Edgar, Stephan Ehl, Helen Chapel, Isabella Quinti, Esther de Vries Infections (recurrent or severe bacterial)
AND
Undetectable serum/plasma IgA level (with normal/lowish IgG and IgM levels)
AND
Low levels in one or more IgG subclass (documented twice)
AND
normal IgG antibody response to some vaccinations
AND
Exclusion of T cell defect
Unclassified antibody deficiencies
Isolated IgG subclass deficiency Nizar Mahlaoui David Edgar, Stephan Ehl, Helen Chapel, Isabella Quinti, Esther de Vries Infections (recurrent or severe bacterial)
AND
normal IgG, A and M serum/plasma levels
AND
Low levels in one or more IgG subclass (documented twice)
AND
Normal IgG antibody response to some vaccinations
AND
Exclusion of T cell defect
Unclassified antibody deficiencies
Deficiency of specific IgG (Specific antibody deficiency - SPAD) Nizar Mahlaoui David Edgar, Stephan Ehl, Helen Chapel, Isabella Quinti, Esther de Vries Infections (recurrent or severe bacterial)
AND
normal serum/plasma IgG, A and M and IgG subclass levels
AND
Profound alteration of the antibody responses to S. pneumoniae (or other polysaccharide vaccine) either after documented invasive infection or after test immunization.
AND
Exclusion of T cell defect
Unclassified antibody deficiencies
Selective IgA deficiency Vojtech Thon, Natalia Martinez, Maria Kanariou, Klaus Warnatz, Isabella Quinti At least one of the following:
• increased susceptibility to infection
• autoimmune manifestations
• affected family member
AND diagnosis after 4th year of life
AND undetectable serum IgA (when measured with nephelometry less than 0.07 g/L) but normal serum IgG and IgM (measured at least twice)
AND secondary causes of hypogammaglobulinaemia have been excluded.
AND normal IgG antibody response to all vaccinations
AND Exclusion of T-cell defect
• For patients with abnormal vaccine responses, please consider Deficiency of specific IgG (SPAD).
• For other patients, please consider Unclassified antibody deficiency.
Selective IgM deficiency Nizar Mahlaoui David Edgar, Stephan Ehl, Helen Chapel, Isabella Quinti, Esther de Vries Infections (either invasive or recurrent, usually bacterial)
AND
Low IgM serum/plasma level (with normal IgG and IgG subclasses and IgA plasma level)
AND
Normal IgG antibody response to all vaccinations
AND
Exclusion of T-cell defect
Unclassified antibody deficiencies
Transient hypogammaglobulinae mia of infancy David Edgar, Maria Kanariou, Esther de Vrie IgG below age-related normal value detected in the first three years of life (measured at least twice)
AND defined causes of hypogammaglobulinaemia have been excluded
AND spontaneous resolution approx. after the 4th birthday
NB: Patients will initially be registered as Unclassified antibody deficiency, in the registry and moved to THI, if there is spontaneous resolution before age 4
Wiskott-Aldrich syndrome (XLT/WAS) Annarosa Soresina, Natalia Martinez, Michael Albert, Adrian Thrasher At least one of the following:
• eczema
• recurrent bacterial or viral infections
• autoimmune diseases (incl. vasculitis)
• malignancy
• reduced WASP expression in a fresh blood sample
• abnormal antibody response to polysaccharide antigens and/or low isohaemagglutinins
• positive maternal family history of XLT/WAS
AND male patient with thrombocytopenia (less than 100,000 platelets/mm3) (measured at least twice)
AND small platelets (platelet volume < 7,5 fl)
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