MCID: ISL085
MIFTS: 20

Isolated Agammaglobulinemia

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Isolated Agammaglobulinemia

MalaCards integrated aliases for Isolated Agammaglobulinemia:

Name: Isolated Agammaglobulinemia 58
Isolated Hypogammaglobulinemia 58

Characteristics:

Orphanet epidemiological data:

58
isolated agammaglobulinemia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Isolated Agammaglobulinemia

MalaCards based summary : Isolated Agammaglobulinemia, also known as isolated hypogammaglobulinemia, is related to pericarditis. Affiliated tissues include skin, bone and eye, and related phenotypes are failure to thrive and recurrent respiratory infections

Related Diseases for Isolated Agammaglobulinemia

Diseases related to Isolated Agammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pericarditis 9.9

Symptoms & Phenotypes for Isolated Agammaglobulinemia

Human phenotypes related to Isolated Agammaglobulinemia:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
5 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
6 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
7 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
8 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
9 recurrent cutaneous abscess formation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100838
10 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
11 otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000388
12 inflammatory abnormality of the eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0100533
13 abnormal lymphocyte morphology 31 hallmark (90%) HP:0004332
14 pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002090
15 abnormality of neutrophils 58 31 frequent (33%) Frequent (79-30%) HP:0001874
16 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
17 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
18 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
19 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
20 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
21 autoimmunity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002960
22 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
23 abnormality of the tonsils 58 31 occasional (7.5%) Occasional (29-5%) HP:0100765
24 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
25 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
26 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
27 clinodactyly of the 5th toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001864
28 abnormality of the lymphatic system 58 Frequent (79-30%)
29 abnormality of lymphocytes 58 Very frequent (99-80%)

Drugs & Therapeutics for Isolated Agammaglobulinemia

Search Clinical Trials , NIH Clinical Center for Isolated Agammaglobulinemia

Genetic Tests for Isolated Agammaglobulinemia

Anatomical Context for Isolated Agammaglobulinemia

MalaCards organs/tissues related to Isolated Agammaglobulinemia:

40
Skin, Bone, Eye, Tonsil, B Cells, Neutrophil, Bone Marrow

Publications for Isolated Agammaglobulinemia

Articles related to Isolated Agammaglobulinemia:

(show all 32)
# Title Authors PMID Year
1
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. 61 6
9445504 1998
2
Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency. 6
29636373 2018
3
[A retrospective study of one case of X-linked agammaglobulinemia]. 6
17327079 2006
4
Genetic analysis of patients with defects in early B-cell development. 6
15661032 2005
5
Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients. 6
12768435 2003
6
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. 6
12204007 2002
7
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. 6
11809909 2002
8
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. 6
11742281 2001
9
Development of type 1 diabetes despite severe hereditary B-cell deficiency. 6
11586956 2001
10
Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families. 6
11564824 2001
11
Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece. 6
11555397 2001
12
A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. 6
11445810 2001
13
X-Linked Agammaglobulinemia 6
20301626 2001
14
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 6
10678660 2000
15
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. 6
9143921 1997
16
Discordant phenotype in siblings with X-linked agammaglobulinemia. 6
8644706 1996
17
The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. 6
7554467 1995
18
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. 6
7809124 1994
19
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 6
7849721 1994
20
Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. 6
7880320 1994
21
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 6
7849697 1994
22
Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. 6
8090769 1994
23
Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. 6
8164701 1994
24
Assessing inheritance of agammaglobulinemia. 6
8164707 1994
25
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. 6
8162056 1994
26
Human genetics. Becoming B cells. 6
7678697 1993
27
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. 6
8380905 1993
28
Carrier detection in typical and atypical X-linked agammaglobulinemia. 6
2896233 1988
29
Agammaglobulinemia, neutropenia, fever, and abdominal pain. 6
4697357 1973
30
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. 61
24216514 2013
31
Visualization of amyloid arthropathy in light-chain systemic amyloidosis on F-18 FDG PET/CT scan. 61
21157212 2011
32
Clinical features and follow-up of Chinese patients with symptomatic hypogammaglobulinemia in infancy. 61
19781364 2009

Variations for Isolated Agammaglobulinemia

Expression for Isolated Agammaglobulinemia

Search GEO for disease gene expression data for Isolated Agammaglobulinemia.

Pathways for Isolated Agammaglobulinemia

GO Terms for Isolated Agammaglobulinemia

Sources for Isolated Agammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
32 ICD10
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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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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