Table 3.
The demograghic data, immunological and genetic findings of 8 patients with caspase-8 deficiency
| Subject | Patient 1a [19] | Patient 2a [19] | Patient 3b [20] | Patient 4b[20] |
Patient 5 [21] |
Patient 6 [21] |
Patient 7 [21] |
Patient 8 | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Age of onset (Year) |
12y | 11y | 38y | 37y | Whitin the first years of life | Within the first years of life | Within the first years of life | 2y | ||||
| Gender | Female | Male | Female | Male | NA | NA | NA | Male | ||||
| First presentation | LAP and splenomegaly | LAP and splenomegaly | Acute shortness of breath | Complex neurological syndrome | Recurrent fever | Bloody diarrhea, recurrent infections and fever | Non-bloody diarrhea, recurrent infections | FUO, dysentery | ||||
| Symptoms | Poor response to immunization, organomegaly, sinopulmonary and herpes simplex virus infection | Poor response to immunization, organomegaly, sinopulmonary and herpes simplex virus infection |
Pneumonia, Pulmonary hypertension, Interstitial lung disease, high grade fever, pancytopenia, multiple necrotizing and non-necrotizing granulomas of lung |
1 cm3 mass at the Meckel’s cave(necrotizing granuloma) aspiration pneumonia, bronchiectasis, organomegaly Multinodular lesions in liver and spleen, cranial nerve palsy/paresis |
FTT, diarrhea, perianal disease, proctocolitis, refractory colitis increased susceptibility to bacterial and viral infections, multiple food allergy with mild peripheral eosinophilia and chronic eosinophilic infiltration antrum and duodenum Chronic eczema, pityriasis amiantacea, and hypothyroidism |
FTT, diarrhea, perianal disease, proctocolitis, increased susceptibility to bacterial and viral infections, Refractory colitis |
FTT, perianal disease, proctocolitis. increased susceptibility to bacterial and viral infections, intestinal obstruction, Refractory colitis |
FUO, dysentry, FTT, lymphadenopathy, allergy to cow's milk protein, splenomegaly, Perianal fissures, Crohn's disease | ||||
| Failure to thrive | + | + | − | − | + | + | + | + | ||||
| Lymphadenopathy | + | + | − | − | + | − | − | − | ||||
| Splenomegaly | + | + | − | + | + | − | − | + | ||||
| Eczema | + | + | − | − | + | − | − | − | ||||
| Reactive airway disease | + | + | − | − | − | − | − | − | ||||
| Pneumonia | + | + | + | + | + | Not mentioned | + | − | ||||
| HSV labialis | + | + | − | − | − | − | − | − | ||||
| Chronic diarrhea | − | + | − | − | + | + | + | + | ||||
| Food allergy | − | − | − | − | + | − | − | + (bovine protein allergy) | ||||
| Infections | sinopulmonary and herpes simplex virus infection | sinopulmonary and herpes simplex virus infection | Acute EBV infection, Nocardia asteroids meningoencephalitis, pneumonia | Aspiration pneumonia | Pneumonia, otitis media, conjuctivitis, purulent dermatitis, molluscum contagiosum, and local infections | |||||||
| Cause of death | Nocardia asteroids meningoencephalitis | Progressive neurological and pulmonary complications | Alive | Septic complications | Alive | Alive | ||||||
| Genetic test |
homozygous CASP 8 mutation c.919C > T; p.R307W |
homozygous CASP 8 mutation c.919C > T; p.R307W |
homozygous CASP 8 mutation c.919C > T; p.R307W |
homozygous CASP 8 mutation c.919C > T; p.R307W |
homozygous CASP8 mutation c.836A>G, p.Q279R |
homozygous CASP8 mutation c.836A > G, p.Q279R |
homozygous CASP 8 mutation c.919C > T; p.R307W |
homozygous CASP8 mutation c.1572G > T p.Q524H |
||||
| Immunoglobulin concentration |
IgG: normal IgA: normal IgM: normal IgE: normal |
IgG: low IgA: normal IgM: low IgE:normal |
IgG: normal IgA: normal IgM: Low IgE: normal |
IgG: normal IgA: normal IgM: Low IgE: normal |
Not available | Not available | Not available |
IgG: normal IgA: low IgM: normal |
||||
| Total lymphocytes |
1510 (normal) |
2362 (normal) |
990 (low) |
3710 (high) |
Not available | Not available | Not available |
5487 (high) |
||||
| CD4% |
23.1 (low) |
25 (low) |
23.5 (low) |
9.3 (low) |
Not available | Not available | Not available | 10 | ||||
| CD8% |
49.6 (normal) |
46.2 (normal) |
65.6 (normal) |
87.6 (high) |
Not available | Not available | Not available | 22 | ||||
| CD4/CD8 ratio |
0.5 (low) |
0.5 (low) |
0.35 (low) |
0.1 (low) |
Not available | Not available | Not available |
0.45 (normal) |
||||
| B Lymphocytes | 361 | 570 | Not available | Not available | Not available | Not available | Not available | Not available | ||||
(Patient number 8 is the case presented in this study)
FTT failure to thrive, LAP lymphadenopathy, FUO fever of unknown origin, NA Not Available
aPatient number 1 and 2 were siblings
bPatients number 3 and 4 were siblings