WHIMS
MCID: WHM001
MIFTS: 60

Whim Syndrome (WHIMS)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Whim Syndrome

MalaCards integrated aliases for Whim Syndrome:

Name: Whim Syndrome 57 12 20 58 73 13 54 44 15 71
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 12 20 29 6 39
Whims 57 12 20 73
Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome 12 58
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome 57
Warts, Hypogammaglobulinemia, Infections and Myelokathexis 73
Warts-Infections-Leukopenia-Myelokatexis Syndrome 58
Wilm 58

Characteristics:

Orphanet epidemiological data:

58
whim syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide),<1/1000000 (France); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood


HPO:

31
whim syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Whim Syndrome

GARD : 20 WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: (W) = warts; (H) = hypogammaglobulinemia; (I) = infections; and (M) = myelokathexis (retention of neutrophils in the bone marrow). Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. In later childhood, individuals develop widespread warts that often become persistent despite treatments that are normally effective. Warts that involve the genital area may eventually cause cancer. It is caused by mutations in the CXCR4 gene and is inherited in an autosomal dominant manner. Treatment may include medications that replace antibodies (intravenous immunoglobulin) or increase the number of neutrophils; vaccinations; and prophylactic antibiotics to reduce the risk of infections.

MalaCards based summary : Whim Syndrome, also known as warts, hypogammaglobulinemia, infections, and myelokathexis, is related to neutropenia and combined immunodeficiency. An important gene associated with Whim Syndrome is CXCR4 (C-X-C Motif Chemokine Receptor 4), and among its related pathways/superpathways are Signaling by GPCR and Neuroscience. The drugs Vincristine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are lymphopenia and neutropenia

Disease Ontology : 12 An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22.

OMIM® : 57 WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by Hernandez et al., 2003). (193670) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 WHIM syndrome: Immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis.

Wikipedia : 74 WHIM Syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare... more...

Related Diseases for Whim Syndrome

Diseases related to Whim Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 neutropenia 30.5 HAX1 G6PC3 ELANE CXCR4 CSF3
2 combined immunodeficiency 30.1 DOCK8 CXCR4 CXCL12 CSF3 CCR6
3 severe congenital neutropenia 29.7 HAX1 G6PC3 ELANE CXCR4 CSF3
4 anogenital venereal wart 29.3 TMC8 TMC6 CCR6
5 lung disease 29.1 ELANE CXCR2 CSF3 ADRB2
6 skin carcinoma 28.7 TMC8 TMC6 CXCR4 CXCL12 CSF3 CCR6
7 agammaglobulinemia 10.7
8 lymphopenia 10.4
9 bacterial infectious disease 10.4
10 aids dementia complex 10.3 CXCR4 CXCL12
11 g6pc3 deficiency 10.3 G6PC3 CXCR4
12 immune deficiency disease 10.3
13 eiken syndrome 10.2 SAG ARRB1
14 central nervous system lymphoma 10.2 CXCR4 CXCL12 CCR6
15 lymphoplasmacytic lymphoma 10.2 CXCR4 CXCL12 ACKR3
16 mental retardation, autosomal dominant 40 10.2 CXCR4 CXCL12 CSF3
17 suppurative lymphadenitis 10.2 DOCK8 CCR6
18 opioid abuse 10.2 SAG CCR6 ARRB2
19 coronary stenosis 10.1 CXCR4 CXCL12 APOE
20 squamous cell papilloma 10.1
21 papilloma 10.1
22 leukocyte disease 10.1 CXCR4 CSF3 CCR6
23 cerebrovascular disease 10.1
24 plasma protein metabolism disease 10.1 ELANE CXCR4 CCR6
25 opportunistic mycosis 10.1 DOCK8 CSF3 CCR6
26 fungal infectious disease 10.1 DOCK8 CSF3 CCR6
27 severe combined immunodeficiency 10.0
28 macroglobulinemia 10.0
29 bronchiectasis 10.0
30 bronchial disease 10.0 ELANE CCR6 ADRB2
31 autosomal recessive severe congenital neutropenia 10.0 HAX1 G6PC3 ELANE
32 otitis externa 10.0 ELANE DOCK8
33 bacterial pneumonia 10.0 ELANE CSF3 CCR6
34 coronin-1a deficiency 9.9 TMC8 DOCK8
35 neutropenia, severe congenital, 3, autosomal recessive 9.9 HAX1 ELANE CSF3
36 mild cognitive impairment 9.9
37 dementia 9.9
38 hyper ige syndrome 9.9 DOCK8 CXCR2 CCR6
39 otitis media 9.9
40 tetralogy of fallot 9.9
41 conotruncal heart malformations 9.9
42 lymphoma, hodgkin, classic 9.9
43 myelofibrosis 9.9
44 leukemia, acute myeloid 9.9
45 yemenite deaf-blind hypopigmentation syndrome 9.9
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
47 oral squamous cell carcinoma 9.9
48 lymphoma 9.9
49 acute erythroid leukemia 9.9
50 tonsillitis 9.9

Graphical network of the top 20 diseases related to Whim Syndrome:



Diseases related to Whim Syndrome

Symptoms & Phenotypes for Whim Syndrome

Human phenotypes related to Whim Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
2 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
3 bone marrow hypercellularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0031020
4 abnormality of neutrophil morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011992
5 myelokathexis 58 31 hallmark (90%) Very frequent (99-80%) HP:0031160
6 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
7 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
8 verrucae 58 31 frequent (33%) Frequent (79-30%) HP:0200043
9 recurrent bacterial infections 58 31 frequent (33%) Frequent (79-30%) HP:0002718
10 decreased circulating antibody level 31 frequent (33%) HP:0004313
11 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
12 sinusitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000246
13 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
14 otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000388
15 cervix cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0030079
16 bronchiectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002110
17 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
18 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
19 limb ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002070
20 abnormality of the small intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002244
21 pharyngitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0025439
22 vitiligo 58 31 very rare (1%) Very rare (<4-1%) HP:0001045
23 atelectasis 58 31 very rare (1%) Very rare (<4-1%) HP:0100750
24 cellulitis 58 31 very rare (1%) Very rare (<4-1%) HP:0100658
25 meningitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001287
26 sepsis 58 31 very rare (1%) Very rare (<4-1%) HP:0100806
27 cutaneous melanoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012056
28 severe periodontitis 58 31 very rare (1%) Very rare (<4-1%) HP:0000166
29 parotitis 58 31 very rare (1%) Very rare (<4-1%) HP:0011850
30 lymphadenitis 58 31 very rare (1%) Very rare (<4-1%) HP:0002840
31 seizure 31 very rare (1%) HP:0001250
32 seizures 58 Very rare (<4-1%)
33 decreased antibody level in blood 58 Frequent (79-30%)
34 papilloma 58 Frequent (79-30%)
35 abnormality of bone marrow cell morphology 31 HP:0005561
36 abnormality of female external genitalia 31 HP:0000055
37 pneumonia 58 Frequent (79-30%)
38 respiratory tract infection 58 Frequent (79-30%)
39 decreased circulating igg level 31 HP:0004315
40 abnormal morphology of female internal genitalia 31 HP:0000008

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Hematology:
bone marrow hypercellularity
myelokathexis (retention of neutrophils in the bone marrow)
peripheral neutropenia
hypermature neutrophils have condensed nuclei connected by long, stringy filaments and vacuolated cytoplasm

Genitourinary External Genitalia Female:
vulval condylomata acuminata

Skin Nails Hair Skin:
verrucae (warts), multiple

Immunology:
hypogammaglobulinemia
chronic human papillomavirus (hpv) infection
recurrent upper respiratory infections

Genitourinary Internal Genitalia Female:
cervical papillomatosis with cervical dysplasia

Clinical features from OMIM®:

193670 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Whim Syndrome according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.09 GRK3
2 Decreased viability GR00221-A-1 10.09 GRK3
3 Decreased viability GR00221-A-2 10.09 GRK3
4 Decreased viability GR00221-A-3 10.09 GRK6
5 Decreased viability GR00221-A-4 10.09 GRK3
6 Decreased viability GR00249-S 10.09 ACKR3 G6PC3 HAX1
7 Decreased viability GR00301-A 10.09 GRK3 GRK6
8 Decreased viability GR00342-S-2 10.09 ADRB2
9 Decreased viability GR00342-S-3 10.09 ADRB2
10 Decreased viability GR00381-A-1 10.09 ADRB2 ARRB1 CXCR4 DOCK8 GRK6
11 Decreased viability GR00381-A-3 10.09 ADRB2
12 Decreased viability GR00386-A-1 10.09 APOE CSF3 CXCR2 TMC8
13 Decreased viability GR00402-S-2 10.09 ACKR3 CXCR4 G6PC3 TMC6 TMC8
14 Increased the percentage of infected cells GR00402-S-1 8.32 ADRB2

MGI Mouse Phenotypes related to Whim Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.16 ACKR3 ADRB2 APOE ARRB1 ARRB2 CCR6
2 homeostasis/metabolism MP:0005376 10 ACKR3 ADRB2 APOE ARRB1 ARRB2 CCR6
3 adipose tissue MP:0005375 9.92 ADRB2 APOE ARRB1 ARRB2 CXCR2 CXCR4
4 immune system MP:0005387 9.83 ACKR3 ADRB2 APOE ARRB2 CCR6 CSF3
5 nervous system MP:0003631 9.4 ACKR3 ADRB2 APOE ARRB2 CCR6 CXCL12

Drugs & Therapeutics for Whim Syndrome

Drugs for Whim Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
2
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
3
Dactinomycin Approved, Investigational Phase 4 50-76-0 2019 457193
4
Epirubicin Approved Phase 4 56420-45-2 41867
5
Oxytetracycline Approved, Investigational, Vet_approved Phase 4 79-57-2 5280972 54715139
6
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
7
Pirarubicin Investigational Phase 4 72496-41-4
8 Immunosuppressive Agents Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Antimitotic Agents Phase 4
11 Immunologic Factors Phase 4
12 Anti-Infective Agents Phase 4
13 Anti-Bacterial Agents Phase 4
14 Tubulin Modulators Phase 4
15 Antirheumatic Agents Phase 4
16 Alkylating Agents Phase 4
17
Liposomal doxorubicin Phase 4 31703
18
Etoposide Approved Phase 3 33419-42-0 36462
19
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
20
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
21
Sulfamethoxazole Approved Phase 3 723-46-6 5329
22
Lenograstim Approved, Investigational Phase 3 135968-09-1
23
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
24 Molgramostim Investigational Phase 3 99283-10-0
25 Etoposide phosphate Phase 3
26 Adjuvants, Immunologic Phase 3
27 Liver Extracts Phase 3
28 Anti-HIV Agents Phase 2, Phase 3
29 Antiviral Agents Phase 2, Phase 3
30 Anti-Retroviral Agents Phase 2, Phase 3
31 Plerixafor octahydrochloride Phase 2, Phase 3
32 Cactinomycin Phase 3
33
Melphalan Approved Phase 2 148-82-3 4053 460612
34
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
35
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
36
Daunorubicin Approved Phase 2 20830-81-3 30323
37
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
38
Ifosfamide Approved Phase 2 3778-73-2 3690
39
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
40
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
41
Pemetrexed Approved, Investigational Phase 1, Phase 2 150399-23-8, 137281-23-3 446556 60843
42
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
43
Cemiplimab Approved, Investigational Phase 1, Phase 2 1801342-60-8
44
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
45
Adenosine Approved, Investigational Phase 2 58-61-7 60961
46
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
47
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
48
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
49
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
50
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-blind, Prospective Study to Evaluate the Efficacy and Safety of Vincristine, Dactinomycin/Cyclophosphamide Combination Therapy Combined With Liposomal Doxorubicin/Doxorubicin/Pharmorubicin/Pirarubicin in 0.5-14 Year Old Children With Nephroblastoma. Not yet recruiting NCT03892330 Phase 4 Vincristine;Oxytetracycline/ Cyclophosphamide;Liposomal doxorubicin;Doxorubicin;Pharmorubicin;Pirarubicin
2 Treatment of Newly Diagnosed Higher Risk Favorable Histology Wilms Tumors Unknown status NCT00379340 Phase 3 doxorubicin hydrochloride;liposomal vincristine sulfate;cyclophosphamide;etoposide
3 Treatment for Very Low and Standard Risk Favorable Histology Wilms Tumor Unknown status NCT00352534 Phase 3 vincristine sulfate;doxorubicin hydrochloride
4 Nephroblastoma (Wilms Tumour) Clinical Trial And Study Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
5 National Wilms Tumor Study-5 -- Treatment of Relapsed Patients, A National Wilms Tumor Study Group Phase III Study Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
6 Detection of Minimal Residual Disease in Newly Diagnosed Patients With Leukemia and Those Who Undergo a Bone Marrow Transplant Using the Wilms Tumor Suppressor Gene (WT1) as a Marker By RT-PCR Completed NCT00179829 Phase 2, Phase 3
7 NATIONAL WILMS TUMOR STUDY-5 -- THERAPEUTIC TRIAL AND BIOLOGY STUDY Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
8 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study of Mavorixafor in Patients With WHIM Syndrome With Open-Label Extension Recruiting NCT03995108 Phase 3 Mavorixafor;Placebo
9 A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients With WHIM Syndrome. Active, not recruiting NCT02231879 Phase 2, Phase 3 Plerixafor;G-CSF
10 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
11 Protocol For The Treatment Of Relapsed And Refractory Wilms Tumour And Clear Cell Sarcoma Of The Kidney (CCSK) Unknown status NCT00025103 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;melphalan;vincristine sulfate
12 Therapeutic Efficacy of Wilms' Tumor Gene (WT1) mRNA-electroporated Autologous Dendritic Cell Vaccination in Patients With Solid Tumors: a Phase I/Feasibility Study Unknown status NCT01291420 Phase 1, Phase 2
13 Therapeutic Efficacy of Wilms Tumor Gene (WT1) mRNA-electroporated Autologous Dendritic Cell Vaccination in Patients With Myeloid Malignancies and Multiple Myeloma: A Phase II Trial Unknown status NCT00965224 Phase 2
14 Phase II Pharmacokinetic Study to Assess the Age-dependency in the Clearance of Doxorubicin in Paediatric Patients With Solid Tumours and Leukaemia Completed NCT01095926 Phase 2 doxorubicin
15 A Phase II Study of Topotecan in Children With Recurrent Wilms Tumor Completed NCT00187031 Phase 2 Topotecan, Filgrastim (G-CSF), Pegfilgrastim
16 Myeloablative Chemotherapy With Stem Cell Rescue for Rare Poor-Prognosis Cancers Completed NCT00141765 Phase 2
17 Wilm's Tumor 1 (WT1) Peptide Vaccination for Patients With High Risk Hematological Malignancies Completed NCT00433745 Phase 2 WT1 Peptide Vaccine
18 A Phase II Trial of All-Trans-Retinoic Acid in Combination With Interferon-Alpha 2a in Children With Recurrent Neuroblastoma or Wilms' Tumor Completed NCT00001509 Phase 2 IFN-alpha with retinoic acid
19 A Phase II Study of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib in Children and Young Adults With Relapsed/Refractory Rhabdomyosarcoma, Wilms Tumor, Hepatocellular Carcinoma, and Papillary Thyroid Carcinoma Completed NCT01502410 Phase 2 sorafenib tosylate
20 Treatment of Newly Diagnosed Diffuse Anaplastic Wilms Tumors (DAWT) and Relapsed Favorable Histology Wilms Tumors (FHWT) Recruiting NCT04322318 Phase 2 Carboplatin;Cyclophosphamide;Doxorubicin;Etoposide;Ifosfamide;Irinotecan;Topotecan;Vincristine
21 A Phase I Study of Mozobil (TM) in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1, Phase 2 Mozobil (TM)
22 First-line Immunotherapy Using Wilms' Tumor Protein 1 (WT1)-Targeted Dendritic Cell Vaccinations for Malignant Pleural Mesothelioma Recruiting NCT02649829 Phase 1, Phase 2
23 Wilms' Tumor (WT1) Antigen-targeted Dendritic Cell Vaccination to Prevent Relapse in Adult Patients With Acute Myeloid Leukemia: a Multicenter Randomized Phase II Trial Recruiting NCT01686334 Phase 2
24 A Phase 2, Open-Label, Multi-Center Trial of Mavorixafor in Patients With WHIM Syndrome Active, not recruiting NCT03005327 Phase 2 X4P-001
25 An Open-Label, Multi-Center Trial of INO-5401 + INO-9012 in Combination With Atezolizumab in Subjects With Locally Advanced Unresectable or Metastatic/Recurrent Urothelial Carcinoma Active, not recruiting NCT03502785 Phase 1, Phase 2 Atezolizumab
26 An Open-Label, Multi-Center Trial of INO-5401 and INO-9012 Delivered by Electroporation (EP) in Combination With REGN2810 in Subjects With Newly-Diagnosed Glioblastoma (GBM) Active, not recruiting NCT03491683 Phase 1, Phase 2 Temozolomide
27 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Active, not recruiting NCT02581384 Phase 1, Phase 2
28 Phase 2 Trial of XL184 (Cabozantinib) an Oral Small-Molecule Inhibitor of Multiple Kinases, in Children and Young Adults With Refractory Sarcomas, Wilms Tumor, and Other Rare Tumors Active, not recruiting NCT02867592 Phase 2 Cabozantinib;Cabozantinib S-malate
29 A Phase 2 Study of IMGN901 (Lorvotuzumab Mertansine; NSC#: 783609) in Children With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor (MPNST) and Synovial Sarcoma Active, not recruiting NCT02452554 Phase 2
30 Personalized Risk-Adapted Therapy in Post-Pubertal Patients With Newly-Diagnosed Medulloblastoma (PersoMed-I) Not yet recruiting NCT04402073 Phase 2 Sonidegib;Cisplatin;Lomustine;Vincristine
31 Phase I Trial and Pharmacokinetic Study of Tariquidar (XR9576), a P-Glycoprotein Inhibitor, in Combination With Doxorubicin, Vinorelbine or Docetaxel in Pediatric Patients With Refractory Solid Tumors Including Brain Tumors Completed NCT00011414 Phase 1 Tariquidar
32 Wilms Tumor Gene (WT1) mRNA-transfected Autologous Dendritic Cell Vaccination for Patients With Acute Myeloid Leukemia (AML): a Phase I Trial Completed NCT00834002 Phase 1
33 Ph 1 Study of Escalating Single & Multiple Doses of Mana 312 (Multi Tumor-Associated Antigen T Cells) Administered to Adult Subjects With Acute Myeloid Leukemia or Myelodysplastic Syndrome After Allogeneic Hematopoietic Stem Cell Transplant Recruiting NCT04679194 Phase 1
34 Observational Study of the Prevalence of Some Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies. Completed NCT03268161
35 Effects of Hormone Therapy on Subclinical Neurological Pathology-The WHIMS-MRI Collaborative Study Completed NCT00739869
36 Observational - Relationships Between Tumor-Associated Macrophages and Clinicopathological Factors in Wilms Tumor Completed NCT01493817
37 Observational - Characterization of Urinary Metabolite Profiles in Wilms Tumor Completed NCT01614808
38 Categorization of Wilms Tumors by Genetic Expression Completed NCT00897637
39 The Incidence, Inheritance, and Prognostic Significance of Polymorphisms in the RASSF1A Gene in Children With Wilms Tumors Completed NCT00088803
40 Therapeutically Applicable Research to Generate Effective Treatments (TARGET) Initiative High-Risk Renal Tumor Project: Application of Array-Based Methods and Next Generation Sequencing to Identify Candidate Molecular Targets for High-Risk Wilms Tumors Completed NCT01118078
41 Pilot Case-Control Study of WT1 Mutations in Wilms Tumor Patients Who Develop ESRD Completed NCT01314391
42 A Genome-Wide Association Study in Wilms Tumor Completed NCT01808079
43 Discovery and Validation of Wilms Tumor Markers Using Urine Proteomics Completed NCT01550393
44 Biological Analysis of Ethnic Variations in Wilms Tumor Completed NCT01542333
45 Validation of Prognostic Markers for Very Low Risk Wilms Tumors Completed NCT01004783
46 Validation of Copy Number Changes by MLPA as Predictors of Relapse in Wilms Tumor Completed NCT01576198
47 Collaborative Wilms Tumour Africa Project Recruiting NCT01991652
48 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Active, not recruiting NCT00503893
49 A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome Withdrawn NCT03087370
50 National Wilm's Tumor Study Late Effects Withdrawn NCT00228696

Search NIH Clinical Center for Whim Syndrome

Cochrane evidence based reviews: whim syndrome

Genetic Tests for Whim Syndrome

Genetic tests related to Whim Syndrome:

# Genetic test Affiliating Genes
1 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 29 CXCR4

Anatomical Context for Whim Syndrome

MalaCards organs/tissues related to Whim Syndrome:

40
Bone Marrow, Myeloid, Bone, Brain, Neutrophil, Small Intestine, Cervix

Publications for Whim Syndrome

Articles related to Whim Syndrome:

(show top 50) (show all 266)
# Title Authors PMID Year
1
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome. 6 57 54 61
18436740 2008
2
WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. 61 54 6 57
15536153 2005
3
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. 6 57 61 54
12692554 2003
4
Plerixafor for the Treatment of WHIM Syndrome. 57 61
30625055 2019
5
Chromothriptic cure of WHIM syndrome. 57 61
25662009 2015
6
Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. 61 57
18274673 2008
7
WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. 61 57
10767001 2000
8
A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. 57
2239986 1990
9
An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinaemia. 57
889707 1977
10
'Myelokathexis'. Neutropenia with marrow hyperplasia. 57
868817 1977
11
CHRONIC IDIOPATHIC GRANULOCYTOPENIA. 57
14122792 1964
12
"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE. 57
14101065 1964
13
Site-specific phosphorylation of CXCR4 is dynamically regulated by multiple kinases and results in differential modulation of CXCR4 signaling. 61 54
20048153 2010
14
A case of WHIM syndrome associated with diabetes and hypothyroidism. 61 54
19476565 2009
15
Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. 61 54
19043667 2008
16
Small neutralizing molecules to inhibit actions of the chemokine CXCL12. 54 61
18556651 2008
17
[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]. 54 61
18535531 2008
18
Regulation of CXCR4 signaling. 61 54
17169327 2007
19
Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. 61 54
17087743 2007
20
WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4. 54 61
16946301 2007
21
Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation. 61 54
16899028 2006
22
WHIM syndrome: a defect in CXCR4 signaling. 61 54
16091205 2005
23
The role of a mutation of the CXCR4 gene in WHIM syndrome. 61 54
16154852 2005
24
Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome. 61 54
15781337 2005
25
CXCR4 mutations in WHIM syndrome: a misguided immune system? 61 54
15661033 2005
26
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. 61 54
15026312 2004
27
WHIM syndrome: a genetic disorder of leukocyte trafficking. 54 61
14612668 2003
28
The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4. 61
33485325 2021
29
Correction to: TREC Screening for WHIM Syndrome. 61
33506316 2021
30
CXCR4 signaling controls dendritic cell location and activation at steady-state and in inflammation. 61
33512478 2021
31
Hematological disorder associated Cxcr4-gain-of-function mutation leads to uncontrolled extrafollicular immune response. 61
33512437 2021
32
TREC Screening for WHIM Syndrome. 61
33415666 2021
33
Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome. 61
32870250 2020
34
Structure-seeking as a psychological antecedent of beliefs about morality. 61
32105120 2020
35
Incomplete Presentation of WHIM Syndrome: The Diagnostic Role of Dysmorphic Neutrophils in Bone Marrow. 61
32769560 2020
36
Fortuna Imperatrix Mundi (Fortune empress of the world): Reflections of an immigrant dermatologist. 61
33280796 2020
37
CXCR4 antagonist AMD3100 (plerixafor): From an impurity to a therapeutic agent. 61
32544428 2020
38
Heart Rate, Brain Imaging Biomarkers and Cognitive Impairment in Older (≥63 years) Women. 61
32576368 2020
39
Rejected Online Feedback From a Swiss Physician Rating Website Between 2008 and 2017: Analysis of 2352 Ratings. 61
32687479 2020
40
Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia. 61
32784523 2020
41
Displacement- and Strain-Based Discrimination of Head Injury Models across a Wide Range of Blunt Conditions. 61
32240424 2020
42
New Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM. 61
32260318 2020
43
Low-fat dietary pattern and global cognitive function: Exploratory analyses of the Women's Health Initiative (WHI) randomized Dietary Modification trial. 61
31938786 2020
44
From Criminalized Patients to Risk-Exposed Agents: Reconceptualizing Carceral Involvement among Individuals with Psychiatric Diagnoses. 61
32952238 2020
45
Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome. 61
31652152 2020
46
Cognitive resilience among APOE ε4 carriers in the oldest old. 61
31418472 2019
47
Low-level Cxcr4-haploinsufficient HSC engraftment is sufficient to correct leukopenia in WHIM syndrome mice. 61
31687976 2019
48
Relations of magnesium intake to cognitive impairment and dementia among participants in the Women's Health Initiative Memory Study: a prospective cohort study. 61
31685499 2019
49
Acute myeloid leukemia arising after Hodgkin lymphoma in a patient with WHIM syndrome. 61
31368255 2019
50
Abnormal Newborn Screen in a WHIM Syndrome Infant. 61
31493092 2019

Variations for Whim Syndrome

ClinVar genetic disease variations for Whim Syndrome:

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CXCR4 NM_003467.2(CXCR4):c.1027G>T (p.Glu343Ter) SNV Pathogenic 14022 rs104893625 2:136872471-136872471 2:136114901-136114901
2 CXCR4 NM_001008540.2(CXCR4):c.1012C>T (p.Arg338Ter) SNV Pathogenic 14020 rs104893624 2:136872498-136872498 2:136114928-136114928
3 CXCR4 NM_003467.2(CXCR4):c.1013C>G (p.Ser338Ter) SNV Pathogenic 14023 rs104893626 2:136872485-136872485 2:136114915-136114915
4 CXCR4 NM_003467.2(CXCR4):c.1016_1017del (p.Ser339fs) Deletion Likely pathogenic 14021 rs730880320 2:136872481-136872482 2:136114911-136114912
5 CXCR4 NM_003467.2(CXCR4):c.994G>T (p.Gly332Ter) SNV Likely pathogenic 574352 rs1240625960 2:136872504-136872504 2:136114934-136114934
6 CXCR4 NC_000002.12:g.(?_135950413)_(136118080_?)dup Duplication Uncertain significance 831169 2:136707983-136875650
7 CXCR4 NM_003467.3(CXCR4):c.928A>G (p.Lys310Glu) SNV Uncertain significance 855157 2:136872570-136872570 2:136115000-136115000
8 CXCR4 NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr) SNV Uncertain significance 855700 2:136872476-136872476 2:136114906-136114906
9 CXCR4 NM_003467.3(CXCR4):c.132del (p.Tyr45fs) Deletion Uncertain significance 863531 2:136873366-136873366 2:136115796-136115796
10 CXCR4 NM_003467.2(CXCR4):c.727A>C (p.Ile243Leu) SNV Uncertain significance 644782 rs762937679 2:136872771-136872771 2:136115201-136115201
11 CXCR4 NM_003467.2(CXCR4):c.250G>A (p.Asp84Asn) SNV Uncertain significance 653935 rs368016542 2:136873248-136873248 2:136115678-136115678
12 CXCR4 NM_003467.2(CXCR4):c.478G>A (p.Val160Ile) SNV Uncertain significance 660916 rs147198552 2:136873020-136873020 2:136115450-136115450
13 CXCR4 NM_003467.2(CXCR4):c.704G>A (p.Arg235His) SNV Uncertain significance 663673 rs377287446 2:136872794-136872794 2:136115224-136115224
14 CXCR4 NM_003467.2(CXCR4):c.506T>C (p.Ile169Thr) SNV Uncertain significance 665616 rs371317659 2:136872992-136872992 2:136115422-136115422
15 CXCR4 NM_003467.2(CXCR4):c.582G>C (p.Leu194Phe) SNV Uncertain significance 624148 rs769772228 2:136872916-136872916 2:136115346-136115346
16 CXCR4 NM_003467.3(CXCR4):c.19T>C (p.Tyr7His) SNV Uncertain significance 941105 2:136873479-136873479 2:136115909-136115909
17 CXCR4 NM_003467.3(CXCR4):c.1054A>G (p.Ser352Gly) SNV Uncertain significance 946873 2:136872444-136872444 2:136114874-136114874
18 CXCR4 NM_003467.3(CXCR4):c.250G>C (p.Asp84His) SNV Uncertain significance 808804 rs368016542 2:136873248-136873248 2:136115678-136115678
19 CXCR4 NM_003467.3(CXCR4):c.973A>G (p.Ser325Gly) SNV Uncertain significance 958354 2:136872525-136872525 2:136114955-136114955
20 CXCR4 NM_003467.2(CXCR4):c.1003G>A (p.Gly335Ser) SNV Uncertain significance 372600 rs147214773 2:136872495-136872495 2:136114925-136114925
21 CXCR4 NM_003467.3(CXCR4):c.373C>G (p.Leu125Val) SNV Uncertain significance 973636 2:136873125-136873125 2:136115555-136115555
22 CXCR4 NC_000002.12:g.(?_135950413)_(136118080_?)del Deletion Uncertain significance 650197 2:136707983-136875650 2:135950413-136118080
23 CXCR4 NM_003467.2(CXCR4):c.458A>C (p.Glu153Ala) SNV Uncertain significance 530952 rs1553457905 2:136873040-136873040 2:136115470-136115470
24 CXCR4 NM_003467.3(CXCR4):c.954_955CT[1] (p.Ser319fs) Microsatellite Uncertain significance 835055 2:136872541-136872542 2:136114971-136114972
25 CXCR4 NM_003467.2(CXCR4):c.273T>C (p.Leu91=) SNV Likely benign 530954 rs1025484081 2:136873225-136873225 2:136115655-136115655
26 CXCR4 NM_003467.3(CXCR4):c.708G>A (p.Lys236=) SNV Likely benign 724626 rs199713103 2:136872790-136872790 2:136115220-136115220
27 CXCR4 NM_003467.3(CXCR4):c.861C>T (p.Thr287=) SNV Likely benign 748112 rs535778934 2:136872637-136872637 2:136115067-136115067
28 CXCR4 NM_003467.3(CXCR4):c.249C>T (p.Ala83=) SNV Likely benign 765513 rs1013459896 2:136873249-136873249 2:136115679-136115679
29 CXCR4 NM_003467.2(CXCR4):c.294C>T (p.Ala98=) SNV Likely benign 530953 rs142289207 2:136873204-136873204 2:136115634-136115634
30 CXCR4 NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) SNV Benign 709395 rs56400844 2:136873341-136873341 2:136115771-136115771
31 CXCR4 NM_003467.3(CXCR4):c.171A>G (p.Gly57=) SNV Benign 790642 rs533290861 2:136873327-136873327 2:136115757-136115757
32 CXCR4 NM_003467.3(CXCR4):c.511G>A (p.Asp171Asn) SNV Benign 799822 rs199535487 2:136872987-136872987 2:136115417-136115417
33 CXCR4 NM_003467.2(CXCR4):c.414C>T (p.Ile138=) SNV Benign 259052 rs2228014 2:136873084-136873084 2:136115514-136115514
34 CXCR4 NM_003467.2(CXCR4):c.783C>T (p.Ile261=) SNV Benign 434875 rs148279552 2:136872715-136872715 2:136115145-136115145

Expression for Whim Syndrome

Search GEO for disease gene expression data for Whim Syndrome.

Pathways for Whim Syndrome

Pathways related to Whim Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 SAG GRK6 GRK3 CXCR4 CXCR2 CXCL12
2 12.39 SAG GRK3 CXCR4 APOE ADRB2
3
Show member pathways
12.35 GRK3 ARRB2 ARRB1 ADRB2
4
Show member pathways
12.32 GRK6 ARRB2 ARRB1 ADRB2 ACKR3
5
Show member pathways
12.2 GRK3 ARRB2 ARRB1 ADRB2
6
Show member pathways
12.05 CXCR4 CXCR2 CXCL12 CCR6 ACKR3
7
Show member pathways
11.98 GRK6 GRK3 ARRB2 ARRB1
8
Show member pathways
11.98 GRK6 GRK3 CXCR4 CXCR2 CXCL12 CCR6
9 11.83 GRK6 GRK3 CXCR4 CXCR2 ARRB2 ARRB1
10 11.81 SAG GRK3 APOE ADRB2
11 11.72 GRK6 GRK3 ARRB2 ARRB1 ADRB2
12 11.64 GRK6 GRK3 ARRB2 ARRB1
13 11.49 ESR2 ARRB2 ARRB1
14 11.44 GRK6 CXCR4 CXCL12 ARRB2
15 11.42 GRK3 ARRB2 ARRB1

GO Terms for Whim Syndrome

Cellular components related to Whim Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.72 ELANE CXCR4 CXCR2 CCR6 ACKR3
2 early endosome GO:0005769 9.56 CXCR4 APOE ADRB2 ACKR3
3 plasma membrane GO:0005886 9.47 TMC6 HAX1 GRK6 GRK3 DOCK8 CXCR4
4 external side of plasma membrane GO:0009897 9.35 CXCR4 CXCR2 CXCL12 CCR6 ACKR3
5 clathrin-coated pit GO:0005905 9.33 ARRB2 ARRB1 ACKR3

Biological processes related to Whim Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.99 CXCR4 CXCR2 CXCL12 CSF3 CCR6 ACKR3
2 signal transduction GO:0007165 9.97 SAG GRK6 GRK3 ESR2 CXCR4 CXCR2
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.89 ARRB2 ARRB1 APOE ACKR3
4 positive regulation of cytosolic calcium ion concentration GO:0007204 9.86 CXCR4 CXCR2 CCR6 ACKR3
5 cellular calcium ion homeostasis GO:0006874 9.81 ELANE CXCL12 APOE
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 HAX1 CSF3 ARRB2
7 calcium-mediated signaling GO:0019722 9.78 CXCR4 CXCR2 CCR6 ACKR3
8 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.77 HAX1 CSF3 ARRB2
9 cellular response to cytokine stimulus GO:0071345 9.76 HAX1 CXCR4 CSF3
10 regulation of G protein-coupled receptor signaling pathway GO:0008277 9.74 GRK6 ARRB2 ARRB1
11 chemotaxis GO:0006935 9.72 CXCR4 CXCR2 CXCL12 CCR6 ACKR3
12 chemokine-mediated signaling pathway GO:0070098 9.71 CXCR2 CXCL12 CCR6 ACKR3
13 G protein-coupled receptor signaling pathway GO:0007186 9.7 GRK6 GRK3 CXCR4 CXCR2 CXCL12 CCR6
14 cellular response to chemokine GO:1990869 9.64 DOCK8 CXCL12
15 positive regulation of T cell migration GO:2000406 9.63 DOCK8 CXCL12
16 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.63 CXCR4 CXCL12 ARRB2
17 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage GO:1902230 9.62 CXCL12 ACKR3
18 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.62 CXCR4 CXCL12
19 leukocyte migration involved in inflammatory response GO:0002523 9.61 ELANE CCR6
20 dendritic cell chemotaxis GO:0002407 9.61 CXCR4 CXCR2 CCR6
21 telencephalon cell migration GO:0022029 9.58 CXCR4 CXCL12
22 receptor internalization GO:0031623 9.56 GRK3 CXCR2 ARRB2 ACKR3
23 follicle-stimulating hormone signaling pathway GO:0042699 9.55 ARRB2 ARRB1
24 positive regulation of mesenchymal stem cell migration GO:1905322 9.54 CXCR4 ACKR3
25 G protein-coupled receptor internalization GO:0002031 9.54 SAG ARRB2 ARRB1
26 desensitization of G protein-coupled receptor signaling pathway by arrestin GO:0002032 9.52 ARRB2 ADRB2
27 response to ultrasound GO:1990478 9.49 CXCR4 CXCL12
28 cell chemotaxis GO:0060326 9.1 CXCR4 CXCR2 CXCL12 CCR6 ARRB2 ACKR3

Molecular functions related to Whim Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.5 TMC8 TMC6 SAG HAX1 GRK6 GRK3
2 enzyme binding GO:0019899 9.85 ESR2 CSF3 ARRB2 ARRB1 ADRB2
3 G protein-coupled receptor binding GO:0001664 9.67 SAG ARRB2 ARRB1
4 mechanosensitive ion channel activity GO:0008381 9.54 TMC8 TMC6
5 arrestin family protein binding GO:1990763 9.51 ARRB2 ARRB1
6 G protein-coupled receptor kinase activity GO:0004703 9.48 GRK6 GRK3
7 beta-adrenergic receptor kinase activity GO:0047696 9.43 GRK6 GRK3
8 alpha-1B adrenergic receptor binding GO:0031692 9.4 ARRB2 ARRB1
9 follicle-stimulating hormone receptor binding GO:0031762 9.37 ARRB2 ARRB1
10 C-X-C chemokine receptor activity GO:0016494 9.33 CXCR4 CXCR2 ACKR3
11 angiotensin receptor binding GO:0031701 9.32 ARRB2 ARRB1
12 alpha-1A adrenergic receptor binding GO:0031691 9.26 ARRB2 ARRB1
13 C-C chemokine binding GO:0019957 9.26 CXCR4 CXCR2 CCR6 ACKR3
14 C-C chemokine receptor activity GO:0016493 8.92 CXCR4 CXCR2 CCR6 ACKR3

Sources for Whim Syndrome

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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