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)
Severe combined immunodeficiency (SCID) Stephan Ehl, Alain Fischer At least one of the following:
• invasive bacterial, viral or fungal/opportunistic infection
• persistent diarrhoea and failure to thrive
• affected family member
AND manifestation in the first year of life
AND HIV excluded
AND 2 of 4 T cell criteria fulfilled :
• low or absent CD3 or CD4 or CD8 T cells
• reduced naive CD4 and/or CD8 T cells
• elevated g/d T cells
• reduced or absent proliferation to mitogen or TCR stimulation
For other (e.g. older) patients with T-cell deficiency, consider Combined IDs.
Atypical Severe Combined Immunodeficiency (Atypical SCID) Stephan Ehl, Alain Fischer Mutation in a SCID-causing gene
AND
>100 T cells/µl
AND
Absence of characteristic SCID-associated infections (PCJ, symptomatic CMV, persistent respiratory or gastrointestinal virus infection) in the first year of life
AND
Does not fulfil the criteria for Omenn syndrome
Combined immunodeficiency
CSR defects and HIGM syndromes Stephan Ehl, Anne Durandy, Teresa Espanol At least one of the following:
• increased susceptibility to infections (recurrent and/or opportunistic, including cryptosporidium)
• immune dysregulation (autoimmunity, lymphoproliferation, sclerosing cholangitis)
• cytopenia (neutropenia or autoimmune)
• malignancy (lymphoma)
• affected family member
AND marked decrease of IgG (measured at least twice)
AND normal or elevated IgM (measured at least twice)
AND defined causes of hypogammaglobulinemia have been excluded
AND no evidence of profound T-cell deficiency, defined as 2/3 of the following (mo=month, y=year of life):
• CD4 numbers/microliter: 0-6mo <1000, 6mo-1y <800, 1-2y <500, 2-6y <300, 6-12y <250, >12y <200
• % naive CD4: 0-2y <30%, 2-6y <25%, 6-16y <20%, >16y 10%
• T cell proliferation absent
AND no evidence of Ataxia telangiectasia (cafe-au lait spots, ataxia, telangiectasia, raised AFP)
HLA class I deficiency Matthew Buckland, Ania Manson, Sofia Grigoriadou At least one of the following:
• Predisposition to recurrent and/or opportunistic infections
• Granulomatous skin lesions
AND at least one of the following:
• Predisposition to recurrent and/or opportunistic infections
• Necrotizing granulomatous skin lesions
• Low T-CD8 or lymphopenia
• Absence of Ab production in response to antigens
• Absence of T cell proliferation in response to antigens
AND Reduced or absent HLA A,B,C expression at the surface of resting and PHA/Cytokine activated T-cells
HLA class II deficiency (MHC2) Nizar Mahlaoui, David Edgar Stephan Ehl, Capucine Picard, Amos Etzioni One of the following:
• Recurrent and/or opportunistic infections
• Autoimmunity
AND one of the following:
• Hypogammaglobulinaemia
• Lymphopenia • Low T-CD4 count
• absence of Ab production in response to antigens or absence of T cell proliferations in response to antigens
AND Reduced or absent HLA DR expression at the surface of B cells and/or monocytes
Combined immunodeficiency
Omenn syndrome Nizar Mahlaoui, Annarosa Soresina, Anna Villa, Alain Fischer Desquamating erythroderma in the first year of life
AND one of the following:
• lymphoproliferation
• failure to thrive
• chronic diarrhoea
• recurrent pneumonia
AND eosinophilia or elevated IgE
AND T-cell deficiency (low naïve cells, reduced proliferation, oligoclonality)
AND maternal engraftment excluded
AND HIV excluded
For other patients with severe erythroderma, please consider:
• SCID
• IPEX
• Unclassified disorders of immune dysregulation
• Unclassified defects in innate immunity
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