Table 1.

Clinical and immunological features of a single kindred found to have a STAT1 gain‐of‐function (GOF) mutation underlying chronic mucocutaneous candidiasis (CMC). T helper type 17 (Th17) cells were measured using in‐vitro stimulation of peripheral blood mononuclear cells (PBMCs) with phorbol myristate acetate (PMA) and ionomycin for 6 h followed by intracellular cytokine staining for interleukin (IL)−17A and analysis by flow cytometry (as detailed in the main text).

Patient	Chronic mucocutaneous candidiasis				Other clinical features	Immunological phenotype			STAT1 Genetics
	Onset	Extent of disease	Treatment	Fungal cultures		T/B/NK	Igs	Th17
II.3	–	Reported to have suffered with CMC	–	–	Oropharyngeal carcinoma (died 40 y/o)	–	–	–	–
II.6	Neonatal	• Childhood:discreet episodes of mild disease affecting nails & oral mucosa • Adulthood: progressively more severe & persistent with oral ulceration & oesophageal involvement	• Azoles for treatment of acute episodes • Azole prophylaxis started in adulthood	• Candida albicans • Progressive azole resistance	Oesophageal strictures, severe dental caries, iron deficiency, oral squamous cell carcinoma (died 43 y/o)	n	n	–	WT/R274W
II.7	5 y/o	• Childhood:discreet episodes of mild disease affecting nails & oral mucosa • Adulthood: progressively more frequent & severe with oesophageal & genital involvement. Persistent oropharyngeal CMC	• Childhood: topical/oral azoles for acute episodes • Daily azole prophylaxis started at 25 y/o, stopped at 48 y/o • Pulsed i.v. ambisome for acute episodes from 48 y/o	• C. albicans • Progressive azole resistance • Pan‐azole resistance 48 y/o	Hyperthyroidism, severe dental caries, anxiety, depression, iron deficiency, venous thromboembolism, allergic rhinitis, asthma, bronchiectasis	Mild T cell lymphocytosis	Polyclonal increase	↓	WT/R274W
III.1	2 y/o	• Childhood:discreet episodes of mild disease affecting nails & oral mucosa • Adulthood: progressively more frequent & severe with oesophageal involvement	• Childhood: topical/oral azoles for acute episodes • Daily azole prophylaxis started at 18 y/o, stopped at 30 y/o • Pulsed i.v. ambisome for acute episodes from 30 y/o	• C. albicans • Progressive azole resistance • Pan‐azole resistance 30 y/o	Severe dental caries, frequent respiratory tract infections, psoriasis, depression, personality disorder	n	n	↓	WT/R274W
III.2	Neonatal	• Childhood:discreet episodes of mild disease affecting nails & oral mucosa • Adulthood:intermittent oesophageal infection	• Childhood: topical/oral azoles for acute episodes • Daily azole prophylaxis started at 5 y/o • Pulsed i.v. caspofungin for acute episodes from 22 y/o	• C. albicans • Progressive azole resistance	Attention deficit and hyperactivity disorder, frequent warts & respiratory tract infections in childhood only, asthma & migraines	Mild lymphopaenia	Polyclonal increase in IgA	↓	WT/R274W
III.6	Infancy	Oral candidiasis in infancy, majority coinciding with courses of anti‐bacterials for respiratory tract infection	• Daily azole prophylaxis started in infancy, stopped at 22 y/o with no recurrence of candidiasis	–	Iron deficiency	n	n	n	WT/WT
III.7	Neonatal	Oral candidiasis in neonatal period	• Daily azole prophylaxis started in infancy, stopped at 15 y/o with no recurrence of candidiasis	–	Iron deficiency	n	n	n	WT/WT
III.8	Neonatal	• Infancy:severe & frequent oral and cutaneous disease • Childhood:more persistent oral disease, nail involvement	• Azoles used for treatment & prophylaxis started in infancy • Prophylaxis stopped at 12 y/o with no adverse effect • Pulsed i.v. ambisome for acute episodes from 12 y/o	• C. albicans • Progressive azole resistance • Pan‐azole resistance 12 y/o	Iron deficiency	n	n	↓	WT/R274W

y/o = years old; Ig = immunoglobulin; i.v. = intravenous; n = normal; WT = wild‐type.