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Table 1 Clinical manifestation of 3 patient

From: Paediatric autoimmune diseases with ELANE mutations associated with neutropenia

 

Age

Gender

Duration of disease

Fever

oral ulcer

Lymphadenitis

Rash

Etiology

Infection site

ANC periodicity

Combined with antoimmune disease

Renal disorder

Hematological disorder

Patient 1

15 years old

male

6 months

+

-

+

+

Tuberculosis、EBV

Septicopyemia, gastrointestinal infection

3 weeks

SLE

+

+

Patient 2

1 year and 10 months old

female

More than 1 years

+

-

-

-

Staphylococcus aureus

Pneumonia, Otitis media

none

AIH

-

+

Patient 3

1 year and 10 months old

male

1 months

+

-

-

-

Preziosi water bacteria, Bacteroides forsythus, Streptococcus anginosus、Streptococcus mitis, Klebsiella pneumoniae, Micromonas micros, EBV

Omphalitis、Pneumonia

13 to 17days

ANCA-associated small vasculitis

-

+