Table 2

Clinical features of the patients with HA20 haploinsufficiency

Patient noFeverUlcersMusculoskeletalOcularSkinCardiovascularIntestinalOtherDisease-related or treatment-related complicationsOther symptoms possibly related to HA20
1With flaresOral, genital and perinealOligoarthritis, then polyarthritis*Bilateral anterior uveitisNoneNoneBloody diarrhoeaRecurrent URTI and tonsillitis during childhood resulting in tonsillectomy; sometimes LAD (axillary, inguinal) with flaresSevere Cushing syndrome growth retardation, cataract and glaucoma requiring multiple ocular surgeriesPremature ovarian failure, geographic tongue, dental crowding secondary to small jaw
2NoneOral, genital and perinealPolyarthritis with dactylitis*Bilateral anterior uveitisNoneNoneBloody diarrhoeaCushing syndrome, cataract and glaucoma requiring multiple ocular surgeriesAcne during adolescence, eczema, pityriasis rosea, geographic tongue, dental crowding secondary to small jaw
3NoneOral and genital*PolyarthritisNonePainful pustules in the genital region, breasts, axillae and sacrum, dermal abscessNoneNoneRecurrent RTI during childhoodAcne during adolescence, thyroid goitre treated with radiation
4IntermittentOral, genital and intestinalPolyarthritis*Retinal vasculitis,
anterior uveitis
Stevens-Johnson syndrome, malar rash, painful subcutaneous rash, purpura, pustular, folliculitis-like rash on the extremitiesNoneDiarrhoea, secondary malabsorption syndromeCNS vasculitis, idiopathic thrombocytopaenic purpuraSteroid-induced diabetes mellitus
5NoneOral and genital*PolyarthritisNonePustular, folliculitis-like rash on the extremitiesNoneNoneSuspicion of pre-eclampsia during pregnancies due to arterial hypertension and proteinuria, later diagnosis of membranous nephropathyIrregular menses, late menarche (at age 18 years)
6IntermittentOral and genital*PolyarthritisNoneFolliculitis, palmoplantar pustulesNoneDiarrhoea, once bloodyRecurrent URTI and tonsillitis during childhood, occasional LAD (neck), intermittent arterial hypertensionEczema, periodontal disease since childhood, recurrent unintentional weight loss
7With flaresOral and genital*PolyarthritisNoneFolliculitisNoneNoneRecurrent RTI resulting in tonsillectomyRemoval of fibroids complicated by severe staphylococcus infectionAsthma, enamel loss, uterine fibroids, status postgastric bypass for obesity
8With flaresOral, genital and intestinalArthralgiaNoneNonePericardial effusion*Bloody diarrhoeaRecurrent URTI under azathioprine according to parents
9Oral and genital*NoneNoneNoneNone
10Recurrent*Oral, rectal and perinealNoneNoneNonePericardial effusionAbdominal pain, anorexia, nausea, vomiting, weight lossRecurrent RTI during childhood (starting at 8 weeks of age) resulting in adenoidectomy and tonsillectomy, 
cervical LAD with fevers
Scoliosis requiring brace and subsequent surgical fusion therapy, vesicoureteral reflux surgery (pyelonephritis), attention deficit hyperactivity disorder
11NoneOral and genital*NoneNoneNoneNoneAbdominal pain, weight lossRecurrent URTI and otitis media during childhood, requiring repeated tympanostomy, recurrent urinary tract infectionsCerebral palsy due to perinatal lacunar infarction, autism, severe foot pain associated with neurological monoplegia due to cerebral palsy requiring gabapentin and amitriptyline, recurrent headaches
12NoneOral and genital*ArthralgiaNoneSevere acne in adulthood in the face, inguinal region and buttocksNoneAbdominal pain, diarrhoea, rectal bleedingRecurrent RTI especially during childhood, asthmatic bronchitisBilateral pneumonia complicated by empyema, drainage and 3× streptokinase treatment and decortication (right lung) with debridement (pus evacuation), azathioprine-induced severe lymphopaenia and neutropaeniaDysmenorrhoea resulting in hysterectomy, rosacea
13With flares
Oral and genital*MyalgiaNoneAcne-like rash on the extremitiesNoneNoneHypothyroidism, arthralgia and myalgia (diagnosis of fibromyalgia), ‘Dental problems’
14NoneOral and genital*NoneNoneNoneNoneNone
15NoneOral and genital*NoneNoneNoneNoneNone
16With flares*Oral, intestinal and perinealNoneNoneNon-specific rashPulmonary embolismPoor feeding, abdominal pain*, bloody diarrhoea, bowel perforationSmall vessel CNS vasculitis, inflammatory fibroepithelial polyp on the arytenoidPosterior reversible encephalopathy syndrome, steroid-induced vertebral compression fractures, cataracts, hyperglycaemia and arterial hypertension
  • *First symptom/finding leading to medical consultation.

  • CNS, central nervous system; HA20, A20 haploinsufficiency; LAD, lymphadenopathy; RTI, respiratory tract infection; URTI, upper respiratory tract infection.