Immunodeficiency with factor I anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: C3 INACTIVATOR DEFICIENCY
COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
CFID
Number of Symptoms 24
OrphanetNr: 200418
OMIM Id: 610984
ICD-10: D84.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Immunodeficiency due to a complement cascade protein anomaly
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0012330) Pyelonephritis 7 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0000099) Glomerulonephritis 13 / 7739
4
 (HPO:0000010) Recurrent urinary tract infections 56 / 7739
5
 (HPO:0011108) Recurrent sinusitis 30 / 7739
6
 (HPO:0000403) Recurrent otitis media 61 / 7739
7
 (HPO:0006946) Recurrent meningitis 6 / 7739
8
 (HPO:0001369) Arthritis 44 / 7739
9
 (HPO:0001581) Recurrent skin infections 9 / 7739
10
 (HPO:0002633) Vasculitis 12 / 7739
11
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
12
 (HPO:0005366) Recurrent streptococcus pneumoniae infections 3 / 7739
13
 (HPO:0005356) Decreased serum complement factor I 3 / 7739
14
 (HPO:0005416) Decreased serum complement factor B 6 / 7739
15
 (HPO:0005369) Decreased serum complement factor H 4 / 7739
16
 (HPO:0005376) Recurrent Haemophilus influenzae infections 2 / 7739
17
 (HPO:0005381) Recurrent meningococcal disease 4 / 7739
18
 (HPO:0005421) Decreased serum complement C3 9 / 7739
19
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
20
 (HPO:0003621) Juvenile onset 105 / 7739
21
 (OMIM) Increased susceptibility to Haemophilus influenzae infections 1 / 7739
22
 (OMIM) Increased susceptibility to Streptococcus pneumoniae infections 1 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Activation of the alternative complement pathway and depletion of complement components 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and follows an autosomal recessive pattern of inheritance (Vyse et al., 1996). See also complement factor H deficiency (609814), which shows overlapping clinical features. ...
Clinical Description OMIM Alper et al. (1970, 1970) and Abramson et al. (1971) reported a patient with increased susceptibility to infection and accelerated catabolism of C3 due to deficiency of the C3 inactivator. Alper et al. (1972) demonstrated that the C3 ...
Molecular genetics OMIM In 2 sibs with complement factor I deficiency reported by Vyse et al. (1994), Vyse et al. (1996) identified a homozygous mutation in the CFI gene (217030.0001). Vyse et al. (1996) also determined that the patient originally reported ...