Information on IMD94

Basic details

Name: Immunodeficiency 94 | Acronym: IMD94
Alt. names: Immunodeficiency-94 with autoinflammation and dysmorphic facies

Gene: IL6ST | MOI: Autosomal dominant | Mechanism of action: Gain of Function

No. of cases in DB: 1 | First reported in: 2021

Last updated on: 2023-03-22 10:04:32 by

OMIM: 619750

Orphanet: -

MONDO: 0030681

DOID: -

ClinGen:

Description

It is a systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. Intellectual development is normal and serum IgE is not elevated. The disease results from constitutive activation of the IL6 signaling cascade, resulting in immune dysregulation and a hyperinflammatory state (summary by Materna-Kiryluk et al., 2021).[OMIM]

Management

Description of management option has not been reviewed yet.

1 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code
102466	M	214962	12	0		Poland	Polish	PMID:33517393 [Patient(III.7)]

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
1	Decreased proportion of switched memory B cells	1 (99.9%)	0 (0.0%)
2	Macroglossia	1 (99.9%)	0 (0.0%)
3	Heart murmur	1 (99.9%)	0 (0.0%)
4	Decreased IgA levels	1 (99.9%)	0 (0.0%)
5	Wide anterior fontanel	1 (99.9%)	0 (0.0%)
6	Hypertelorism	1 (99.9%)	0 (0.0%)
7	Decreased IgG levels	1 (99.9%)	0 (0.0%)
8	Short neck	1 (99.9%)	0 (0.0%)
9	Decreased proportion of unswitched memory B cells	1 (99.9%)	0 (0.0%)
10	Elevated circulating amyloid A	1 (99.9%)	0 (0.0%)
11	Eosinophilia	1 (99.9%)	0 (0.0%)
12	Lymphadenopathy	1 (99.9%)	0 (0.0%)
13	Pectus carinatum	1 (99.9%)	0 (0.0%)
14	Decreased growth hormone levels	1 (99.9%)	0 (0.0%)
15	(unusual) Respiratory tract infection	1 (99.9%)	0 (0.0%)
16	Hepatopathy	1 (99.9%)	0 (0.0%)
17	Hepatosplenomegaly	1 (99.9%)	0 (0.0%)
18	Mitral regurgitation	1 (99.9%)	0 (0.0%)
19	Abnormal left ventricle morphology	1 (99.9%)	0 (0.0%)
20	Decreased proportion of plasmablasts	1 (99.9%)	0 (0.0%)
21	Decreased IgM levels	1 (99.9%)	0 (0.0%)
22	Increased proportion of naive B cells	1 (99.9%)	0 (0.0%)
23	Abnormal lymphoproliferation	1 (99.9%)	0 (0.0%)
24	short stature	1 (99.9%)	0 (0.0%)
25	Immunodeficiency	1 (99.9%)	0 (0.0%)
26	Cubitus valgus	1 (99.9%)	0 (0.0%)
27	Granulomatous-lymphocytic interstitial lung disease	1 (99.9%)	0 (0.0%)
28	Lung disease	1 (99.9%)	0 (0.0%)
29	Atopy	1 (99.9%)	0 (0.0%)
30	Scoliosis	1 (99.9%)	0 (0.0%)
31	Growth delay	1 (99.9%)	0 (0.0%)
32	Microcytic anemia	1 (99.9%)	0 (0.0%)
33	Generalized lymphadenopathy	1 (99.9%)	0 (0.0%)
34	Osteonecrosis	1 (99.9%)	0 (0.0%)
35	Hypogammaglobulinemia	1 (99.9%)	0 (0.0%)
36	Pneumonia	1 (99.9%)	0 (0.0%)
37	Elevated C-reactive protein	1 (99.9%)	0 (0.0%)
38	Joint hypermobility	1 (99.9%)	0 (0.0%)
39	Facial dysmorphism	1 (99.9%)	0 (0.0%)
40	Asthma	1 (99.9%)	0 (0.0%)
41	Hydrocele testis	1 (99.9%)	0 (0.0%)
42	Abnormal testis morphology	1 (99.9%)	0 (0.0%)
43	Cardiac amyloidosis	0 (0.0%)	1 (99.9%)
44	Amyloidosis	0 (0.0%)	1 (99.9%)

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications
Packed Red Blood Cell Transfusion	Unspecified (1) for Microcytic anemia
Iron supplementation	Unspecified (1) for Microcytic anemia
growth hormones	Unspecified (1) for Decreased growth hormone levels & Growth delay