Table 1

Clinical features of patients with LRBA mutations

Patient
12.12.23456789
Genotypep.D1053fs/p.S2659* (c.3156del/c.7976C>A)p.R2348* (c.7042C>T)p.R2348* (c.7042C>T)p.R1271* (c.3811C>T)p.? (c.5581–1G>A)p.M589fs (c.1764dup)p.P816fs (c.2447del)p.? (c.(4729+1_4730–1)_(5171+1_5172–1)del)p.? (c.5172–2A>G)p.I1330fs (c.3988dup)
Birth weight, g (gestational weeks)2,600 (35)3,200 (39)3,200 (unknown)2,700 (40)3,200 (38)2,750 (39)3,200 (40)2,965 (40)2,970 (40)3,000 (40)
SexMaleMaleMaleMaleFemaleFemaleMaleMaleFemaleMale
Current age (years)Deceased1Deceased8Deceased262614
Known consanguinityNoYesYesYesYesYesYesNoYesYes
EthnicityTurkishMoroccanMoroccanOmaniOmaniIranianEgyptianChineseTurkishPakistani
Diabetes features
 Age at onset7 weeks6 weeks15 months4 months5 months9 months9 months10 months8 months7 months
 Treatment (dose, units/kg/day)Insulin (1)Insulin (1)Insulin (1.2)Insulin (1)Insulin (0.6)Insulin (0.7)Insulin (2)Insulin (0.6)Insulin (0.9)Insulin (1.7)
 HbA1c, % (mmol/mol)7.0 (53)7.1 (54)6.6 (49)7.1 (54)8.3 (67)NDND8.7 (72)7.2 (55)ND
 Antibody statusGAD negativeGAD/IA2/ZnT8 negativeNDGAD/IA2 negativeGAD positiveNDNDGAD negativeGAD/IA2 negativeND
Immune dysregulatory features
 Hematological disordersThrombocytopenia, autoimmune lymphoproliferative diseaseThrombocytopenia, autoimmune lymphoproliferative diseaseAgammaglobulinemia, autoimmune lymphoproliferative diseaseThrombocytopenia, autoimmune hemolytic anemiaPernicious anemia
 Gastrointestinal disordersAutoimmune enteropathyAutoimmune enteropathy, hepatosplenomegalyHepatosplenomegalyAutoimmune enteropathyEpisodes of diarrheaCeliac diseaseChronic diarrhea
 Endocrine disordersAutoimmune hypothyroidismTPO Ab positive (subclinical hypothyroidism)
 Recurrent infectionsDied of septic shock following unknown infectionRecurrent chest infections (Aspergillus spp.)PneumoniaPneumonia, otitis mediaURTI, septicemia
Other featuresCleft lip, developmental delay, hemiparesis. Died of intracranial bleedLymphocytic interstitial pneumoniaDied of nephroblastomaHistory of convulsions, multiple cerebral infarctionsParenchymal calcification of kidneys
  • All mutations are homozygous unless otherwise indicated and are described according to Human Genome Variation Society guidelines based on the longest isoform, NM_006726.4. Disorders reported are based on the clinical diagnosis made by the patients’ physician and were not always confirmed by diagnostic investigations such as biopsies. ND, no data; TPO Ab, thyroid peroxidase antibody; URTI, upper respiratory tract infections.

  • Most recent HbA1c recorded.