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)
Chronic mucocutaneous candidiasis (CMC)	Nizar Mahlaoui, Frank.vandeVe erdonk (Radboud), Desa Lilic	Look for: • chronic, persistent or recurrent non-invasive mucocutaneous Candida or dermatophyte infections (oral, oesophageal (difficulty swallowing, oesophageal cancer) genital, skin, nails) – confirm with culture • other infections: skin (boils, abscesses, eczema, rosacea) lungs (chest infections, bronchiectasis) eyes (styes, blepharitis, conjunctivitis) • autoimmunity: hypothyroidism, vitiligo, alopecia, autoimmune hepatitis • vasculopathy (intracranial aneurisms, brain vascular anomalies) • family history / early age of onset Exclude secondary causes: • predisposing conditions: HIV, diabetes, iron deficiency, neutropenia, dentures • predisposing treatments: antibiotics, immunosuppressive drugs, inhaled steroids, PPIs • exclude isolated recurrent vulvo-vaginal candidiasis (RVVC) [Comment: Informative tests (where available): i. Th-17 & Th-22 cells and production ii. Low CD4 and B cell counts (combined immune deficiency) iii. Low iron]
Defects with susceptibility to mycobacterial infection (MSMD)	Nizar Mahlaoui, Capucine Picard, Jacinta Bustamante	Infections caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, tuberculosis, salmonellosis, candidiasis, other intramacrophagic bacteria, fungi, or parasites, AND Altered IFN-γ mediated immunity tests or Altered IL-12 mediated immunity tests AND no IFN-γ auto-antibodies
Herpetic encephalitis (HSE)	Nizar Mahlaoui, Jean-Laurent Casanova, Isabelle Meyts, Shen-Yin Zhang	Sporadic Herpes Simplex virus 1 (HSV-2 are excluded) encephalitis in otherwise healthy individuals, wide spectrum of clinical features ranging from necrosis of brain tissue (of the forebrain in 95%, of the brainstem in 5%), fever, altered behavior and disturbed consciousness, with brain image data suggesting brain lesions, and with at least one of the four following virological criteria fulfilled: 1) HSV-1 PCR positive in CSF, OR 2) HSV-1 antigen positive in CSF OR, 3) anti-HSV-1 antibodies in CSF, OR 4) sero-conversion of anti-HSV-1 antibodies in blood.
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