Information on IMD87
Basic details
Name: Immunodeficiency 87 | Acronym: IMD87
Alt. names: DEF6 deficiency | Immunodeficiency 87 and autoimmunity
Gene: DEF6 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 19 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with enteropathy, lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Cardiomyopathy has also been described. Laboratory studies may show mild CD4 and CD8 lymphopenia and low or normal B cell numbers. The disorder results primarily from defects in T-reg function, which causes both immunodeficiency and overall immune dysregulation.
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
19 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
105339 |
F | 215701 |
0 | Pakistani | PMID:31308374 [Fam.A:III.4(P1)] | |||
| 105361 |
F | 215701 |
Pakistani | PMID:31308374 [Fam.A:III.3(P2)] | ||||
| 105362 |
M | 215721 |
Iraqi | PMID:31308374 [Fam.B:II.1(P3)] | ||||
| 105382 |
M | 215733 |
16 | France | Moroccan | PMID:32562707 [Fam.1:II.1(Pt 1)] | ||
| 105389 |
F | 215733 |
10 | France | Moroccan | PMID:32562707 [Fam.1:II.2(Pt 2)] | ||
| 105394 |
F | 215733 |
12 | France | Moroccan | PMID:32562707 [Fam.1:II.3(Pt 3)] | ||
| 105396 |
F | 215733 |
1 | France | Moroccan | PMID:32562707 [Fam.1:II.4(Pt 4)] | ||
| 105592 |
M | 215701 |
Pakistani | PMID:31308374 [Fam.A:II.2(II-2)] | ||||
| 105593 |
F | 215701 |
Pakistani | PMID:31308374 [Fam.A:II.3(II-3)] | ||||
| 105594 |
M | 215701 |
Pakistani | PMID:31308374 [Fam.A:II.1(II-1)] | ||||
| 105595 |
F | 215701 |
Pakistani | PMID:31308374 [Fam.A:III.1(III-1)] | ||||
| 105597 |
F | 215701 |
Pakistani | PMID:31308374 [Fam.A:II.4(II-4)] | ||||
| 105598 |
M | 215701 |
Pakistani | PMID:31308374 [Fam.A:II.5(II-5)] | ||||
| 105599 |
M | 215701 |
Pakistani | PMID:31308374 [Fam.A:II.6(II-6)] | ||||
| 105600 |
F | 215701 |
Pakistani | PMID:31308374 [Fam.A:II.7(II-7)] | ||||
| 105602 |
F | 215701 |
Pakistani | PMID:31308374 [Fam.A:I.4(I-2)] | ||||
| 105610 |
U | 215701 |
Pakistani | PMID:31308374 [Fam.A:III.5(III-5)] | ||||
| 105613 |
M | 215721 |
Iraqi | PMID:31308374 [Fam.B:I.1(I.1)] | ||||
| 105614 |
F | 215721 |
Iraqi | PMID:31308374 [Fam.B:I.2(I.2)] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Hepatopathy |
2 (10.5%) | 0 (0.0%) | 17 (89.5%) |
| 2 | Intrauterine growth retardation |
2 (10.5%) | 0 (0.0%) | 17 (89.5%) |
| 3 | Abnormal lymphoproliferation |
2 (10.5%) | 1 (5.3%) | 16 (84.2%) |
| 4 | Enteropathy |
2 (10.5%) | 0 (0.0%) | 17 (89.5%) |
| 5 | Cytomegalovirus infection |
2 (10.5%) | 0 (0.0%) | 17 (89.5%) |
| 6 | Hypertelorism |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 7 | Villous atrophy |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 8 | Necrotizing enterocolitis |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 9 | Hepatic steatosis |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 10 | Thrombocytopenia |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 11 | Biventricular hypertrophy |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 12 | Jaundice |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 13 | Septicaemia |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 14 | Rectal ulcer |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 15 | Fever |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 16 | Cholestasis |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 17 | Hepatosplenomegaly |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 18 | Oligohydramnios |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 19 | Atrial septal defect |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 20 | Dilated cardiomyopathy |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 21 | Complete atrioventricular canal defect |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 22 | Elevated hepatic transaminases |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 23 | Premature rupture of membranes |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 24 | Metabolic acidosis |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 25 | Vomiting |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 26 | Autoimmunity |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 27 | Hypertriglyceridemia |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 28 | Recurrent infections |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 29 | Autoimmune hemolytic anemia |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 30 | Abnormal blood ion concentration |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 31 | Autoimmune cytopenia |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 32 | Nevus |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 33 | Abnormality of the gastric mucosa |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 34 | Hepatomegaly |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 35 | Duodenitis |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 36 | Pulmonary Hypertension |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 37 | Congestive heart failure |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 38 | Diarrhea |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 39 | Cardiomyopathy |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 40 | Hepatic failure |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 41 | Hypokalemia |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 42 | Hypogammaglobulinemia |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 43 | Postnatal growth retardation |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 44 | Abnormal adipose tissue morphology |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 45 | Hemolytic anemia |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 46 | Ascites |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 47 | Perianal rash |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 48 | Hypertension |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 49 | Respiratory distress |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 50 | Anasarca |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 51 | Cleft palate |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 52 | Anal fissure |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 53 | Tendonitis |
0 (0.0%) | 1 (5.3%) | 18 (94.7%) |
| 54 | Lymphadenopathy |
0 (0.0%) | 1 (5.3%) | 18 (94.7%) |
| 55 | Hodgkin lymphoma |
0 (0.0%) | 1 (5.3%) | 18 (94.7%) |
| 56 | Henoch-Schönlein Purpura |
0 (0.0%) | 1 (5.3%) | 18 (94.7%) |
| 57 | Synovitis |
0 (0.0%) | 1 (5.3%) | 18 (94.7%) |
| 58 | Arthritis |
0 (0.0%) | 1 (5.3%) | 18 (94.7%) |
| 59 | Persistent EBV viremia |
0 (0.0%) | 2 (10.5%) | 17 (89.5%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|---|
| Immunosuppressive agents | Excelent/Remision (2) for Diarrhea; unspecified. Mild (1) for Diarrhea. Moderate (1) for Autoimmune hemolytic anemia. Unspecified (1) for Diarrhea |
| Corticosteroids | Mild (1) for Diarrhea. Moderate (1) for Autoimmune hemolytic anemia. Excelent/Remision (1) for unspecified |
| Azathioprine | Moderate (1) for Autoimmune hemolytic anemia. Excelent/Remision (1) for unspecified |
| Prednisolone | Mild (1) for Diarrhea |
| Biological agents | Moderate (1) for Autoimmune hemolytic anemia |
| Monoclonal antibodies | Moderate (1) for Autoimmune hemolytic anemia |
| Rituximab | Moderate (1) for Autoimmune hemolytic anemia |
| Intravenous immunoglobulin therapy | Unspecified (1) for Hypogammaglobulinemia |
| Cyclosporine | Unspecified (1) for Diarrhea |
| Blood transfusion | Unspecified (1) for Autoimmune hemolytic anemia |
| Ursodeoxycholic Acid | Excelent/Remision (1) for Elevated hepatic transaminases |
| Hematopoietic stem cell transplantation | Unspecified (1) for unspecified |
| Ganciclovir | Excelent/Remision (1) for unspecified |
| Abatacept | Excelent/Remision (1) for Diarrhea |
| Valganciclovir | Excelent/Remision (1) for unspecified |
| Antiviral agent | Excelent/Remision (1) for unspecified |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.