IMD61
MCID: IMM198
MIFTS: 24

Immunodeficiency 61 (IMD61)

Categories: Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 61

MalaCards integrated aliases for Immunodeficiency 61:

Name: Immunodeficiency 61 57 12 72 29 6
Agammaglobulinemia, X-Linked, Type 2 57 72 44 70
Imd61 57 12 72
Agmx2 57 20 72
Xla2 57 20 72
Agammaglobulinemia, X-Linked, Type 2; Agmx2 57
Agammaglobulinemia X-Linked Type 2 20
Agammaglobulinemia, X-Linked 2 13

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:



External Ids:

Disease Ontology 12 DOID:0111999
OMIM® 57 300310
OMIM Phenotypic Series 57 PS300755 PS601495
MedGen 41 C1845903
UMLS 70 C1845903

Summaries for Immunodeficiency 61

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 61, also known as agammaglobulinemia, x-linked, type 2, 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

Disease Ontology : 12 A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has material basis in hemizygous mutation in SH3KBP1 on chromosome Xp22.12.

UniProtKB/Swiss-Prot : 72 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 11.1
2 agammaglobulinemia, x-linked 10.9

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 61

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 61

Cochrane evidence based reviews: agammaglobulinemia, x-linked, type 2

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. 6 57
29636373 2018
2
CIN85 drives B cell responses by linking BCR signals to the canonical NF-kappaB pathway. 57
21708930 2011
3
Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. 57
3502688 1986
4
[Profile of HIV-infected children at the National University Hospital of Cotonou (CNHU)]. 61
29925217 2013

Variations for Immunodeficiency 61

ClinVar genetic disease variations for Immunodeficiency 61:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SH3KBP1 NC_000023.10:g.19667630_19886572del Deletion Pathogenic 626219 GRCh37:
GRCh38:

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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