IMD61
MCID: IMM198
MIFTS: 23

Immunodeficiency 61 (IMD61)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 61

MalaCards integrated aliases for Immunodeficiency 61:

Name: Immunodeficiency 61 56 73 29 6
Agmx2 56 52 73
Xla2 56 52 73
Agammaglobulinemia, X-Linked, Type 2 56 73
Imd61 56 73
Agammaglobulinemia, X-Linked, Type 2; Agmx2 56
Agammaglobulinemia X-Linked Type 2 52
Agammaglobulinemia, X-Linked 2 13

Characteristics:

OMIM:

56
Miscellaneous:
variable severity
onset in early childhood
two brothers have been reported (last curated april 2019)

Inheritance:
x-linked recessive


HPO:

31
immunodeficiency 61:
Inheritance x-linked inheritance x-linked recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Immunodeficiency 61

OMIM : 56 Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by Keller et al., 2018). For a general phenotypic description of X-linked agammaglobulinemia, see 300755. (300310)

MalaCards based summary : Immunodeficiency 61, also known as agmx2, is related to agammaglobulinemia and agammaglobulinemia, x-linked. An important gene associated with Immunodeficiency 61 is SH3KBP1 (SH3 Domain Containing Kinase Binding Protein 1). Affiliated tissues include b cells, t cells and colon, and related phenotypes are arthritis and malabsorption

UniProtKB/Swiss-Prot : 73 Immunodeficiency 61: An X-linked recessive primary immunologic disorder characterized by recurrent infections due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production. Disease severity is variable and onset is in early childhood.

Related Diseases for Immunodeficiency 61

Diseases related to Immunodeficiency 61 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 11.4
2 agammaglobulinemia, x-linked 11.3

Symptoms & Phenotypes for Immunodeficiency 61

Human phenotypes related to Immunodeficiency 61:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 malabsorption 31 HP:0002024
3 attention deficit hyperactivity disorder 31 HP:0007018
4 recurrent otitis media 31 HP:0000403
5 obesity 31 HP:0001513
6 colon cancer 31 HP:0003003
7 agammaglobulinemia 31 HP:0004432
8 recurrent fever 31 HP:0001954
9 recurrent bacterial infections 31 HP:0002718
10 recurrent sinusitis 31 HP:0011108
11 frequent giardia lamblia infestation 31 HP:0005215

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Respiratory:
respiratory infections, recurrent

Respiratory Nasopharynx:
sinusitis, recurrent

Neurologic Central Nervous System:
impaired adaptive skills, mild

Immunology:
recurrent infections
decreased antibodies
defective b cell response to stimulation at the b-cell receptor
normal levels of circulating b cells
normal t cell levels and function

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM:

300310

Drugs & Therapeutics for Immunodeficiency 61

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 61

Genetic Tests for Immunodeficiency 61

Genetic tests related to Immunodeficiency 61:

# Genetic test Affiliating Genes
1 Immunodeficiency 61 29 SH3KBP1

Anatomical Context for Immunodeficiency 61

MalaCards organs/tissues related to Immunodeficiency 61:

40
B Cells, T Cells, Colon

Publications for Immunodeficiency 61

Articles related to Immunodeficiency 61:

# Title Authors PMID Year
1
Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency. 56 6
29636373 2018
2
CIN85 drives B cell responses by linking BCR signals to the canonical NF-kappaB pathway. 56
21708930 2011
3
Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. 56
3502688 1986
4
Clustered Xenopus keratin genes: A genomic, transcriptomic, and proteomic analysis. 61
27842699 2017
5
[Profile of HIV-infected children at the National University Hospital of Cotonou (CNHU)]. 61
29925217 2013
6
Expression profiling in transformed human B cells: influence of Btk mutations and comparison to B cell lymphomas using filter and oligonucleotide arrays. 61
11920564 2002

Variations for Immunodeficiency 61

ClinVar genetic disease variations for Immunodeficiency 61:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3KBP1 SH3KBP1, 247.5-KB DELdeletion Pathogenic 626219

Expression for Immunodeficiency 61

Search GEO for disease gene expression data for Immunodeficiency 61.

Pathways for Immunodeficiency 61

GO Terms for Immunodeficiency 61

Sources for Immunodeficiency 61

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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