PFITS
MCID: PRD048
MIFTS: 28

Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome (PFITS)

Categories: Blood diseases, Genetic diseases, Immune diseases, Respiratory diseases

Aliases & Classifications for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

MalaCards integrated aliases for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome:

Name: Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome 57 72
Lazy Leukocyte Syndrome 57 72 29 6 70
Pfits 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in early childhood
early death (in some patients)
bone marrow transplantation is effective


HPO:

31
periodic fever, immunodeficiency, and thrombocytopenia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

OMIM® : 57 Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections. Organisms usually include bacteria such as pneumococcus, Staphylococcus, and H. influenzae, but severe viral infections, including varicella, may also occur. Laboratory investigations may show neutropenia, neutrophilia, leukocytosis, or lymphopenia, although levels of immune cells may also be normal. Detailed studies often show impaired neutrophil chemotaxis associated with increased or abnormal F-actin levels, and impaired, normal, or even increased oxidative burst, depending on the stimulus. B- and T-cell abnormalities have also been observed. Some patients develop autoimmune manifestations, including chronic thrombocytopenia, anemia, and periodic fevers, associated with activation of the inflammasome. Early death may occur; however, hematopoietic stem cell transplantation may be curative (summary by Kuhns et al., 2016, Standing et al., 2017, and Pfajfer et al., 2018). (150550) (Updated 05-Apr-2021)

MalaCards based summary : Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome, is also known as lazy leukocyte syndrome. An important gene associated with Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome is WDR1 (WD Repeat Domain 1). Affiliated tissues include neutrophil, bone marrow and bone, and related phenotypes are splenomegaly and recurrent pneumonia

UniProtKB/Swiss-Prot : 72 Periodic fever, immunodeficiency, and thrombocytopenia syndrome: An immunologic disorder with variable manifestations including early- onset recurrent respiratory infections, stomatitis, cutaneous infections, and neutropenia.

Related Diseases for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

Symptoms & Phenotypes for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

Human phenotypes related to Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 recurrent pneumonia 31 very rare (1%) HP:0006532
3 diarrhea 31 very rare (1%) HP:0002014
4 lymphadenopathy 31 very rare (1%) HP:0002716
5 recurrent aphthous stomatitis 31 very rare (1%) HP:0011107
6 bronchiectasis 31 very rare (1%) HP:0002110
7 recurrent fever 31 very rare (1%) HP:0001954
8 b lymphocytopenia 31 very rare (1%) HP:0010976
9 pyoderma gangrenosum 31 very rare (1%) HP:0025452
10 chronic oral candidiasis 31 very rare (1%) HP:0009098
11 abnormal cd4:cd8 ratio 31 very rare (1%) HP:0031394
12 intermittent thrombocytopenia 31 very rare (1%) HP:0004854
13 specific learning disability 31 HP:0001328
14 neutropenia 31 HP:0001875
15 abscess 31 HP:0025615

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
immunodeficiency
lymphopenia
leukocytosis
recurrent bacterial infections
susceptibility to viral infections
more
Respiratory Lung:
chronic lung disease

Neurologic Central Nervous System:
learning difficulties (in some patients)
impaired intellectual development, mild (in some patients)

Respiratory:
respiratory infections, recurrent

Head And Neck Face:
dysmorphic facies, mild (1 family)

Metabolic Features:
fevers, recurrent

Head And Neck Ears:
otitis media

Head And Neck Mouth:
stomatitis
aphthous ulcers

Hematology:
thrombocytopenia (in some patients)
anemia (in some patients)

Growth Other:
poor overall growth

Skin Nails Hair Skin:
skin infections, chronic
abscesses

Clinical features from OMIM®:

150550 (Updated 05-Apr-2021)

Drugs & Therapeutics for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Feasibility Trial of Positive Family Interaction Therapy Unknown status NCT01409642
2 The Validity and Reliability of the Turkish Version of the Chelsea Critical Care Physical Assesment Tool Recruiting NCT04811638

Search NIH Clinical Center for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

Genetic Tests for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

Genetic tests related to Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome:

# Genetic test Affiliating Genes
1 Lazy Leukocyte Syndrome 29 WDR1

Anatomical Context for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

MalaCards organs/tissues related to Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome:

40
Neutrophil, Bone Marrow, Bone, Lung, B Cells

Publications for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

Articles related to Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome:

(show all 28)
# Title Authors PMID Year
1
Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity. 6 57
29751004 2018
2
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1. 57 6
27994071 2017
3
Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency. 57 6
27557945 2016
4
Recurrent severe infections in a child with abnormal leukocyte function: possible relationship to increased microtubule assembly. 57 6
205284 1978
5
Lazy leukocyte syndrome. 57 61
6610763 1984
6
Transient 'lazy-leukocyte' syndrome during infancy. 61 57
7377154 1980
7
Lazy leukocyte syndrome. 61 57
497407 1979
8
Lazy leucocyte syndrome--disorder of the granulocyte membrane? 57
641207 1978
9
Pathology of chemotaxis and random mobility. 57
1088998 1975
10
A new familial defect of neutrophil movement. 57
4718002 1973
11
Lazy-leucocyte syndrome. A new disorder of neutrophil function. 57
4101613 1971
12
Lazy Leukocyte Syndrome-an Enigma Finally Solved? 61
31768891 2020
13
The lazy leukocyte syndrome revisited. 61
27789436 2016
14
[Lazy-leukocyte syndrome]. 61
11212677 2000
15
[Lazy-leukocyte syndrome]. 61
9833434 1998
16
Current view of risk factors for periodontal diseases. 61
8910821 1996
17
Current View of Risk Factors for Periodontal Diseases. 61
29539789 1996
18
Leukocyte functions. 61
3543488 1987
19
Lazy leukocyte syndrome in a black infant. 61
4078918 1985
20
Impaired natural killer cell recycling in childhood chronic neutropenia with morphological abnormalities and defective chemotaxis of neutrophils. 61
3873972 1985
21
[Evaluation of the metabolism and function of peripheral blood neutrophils in a patient with the lazy leukocyte syndrome]. 61
3880375 1985
22
[3 cases of lazy-leukocyte syndrome]. 61
6645076 1983
23
Chemotaxis. 61
6997207 1980
24
Oral management of lazy leukocyte syndrome--a case report. 61
298779 1979
25
[Pathology of the polymorphonuclears in dermatology. Methods of investigation. Clinical pictures (author's transl)]. 61
224753 1979
26
[Lazy leukocyte syndrome]. 61
613082 1977
27
Lazy-leukocyte syndrome. A case report. 61
1185400 1975
28
[Neutropenia in disorders of the neutrophil motility]. 61
1108184 1975

Variations for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

ClinVar genetic disease variations for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR1 NM_017491.5(WDR1):c.76G>A (p.Asp26Asn) SNV Pathogenic 974599 GRCh37: 4:10117799-10117799
GRCh38: 4:10116175-10116175
2 WDR1 NM_017491.5(WDR1):c.1270G>A (p.Val424Met) SNV Pathogenic 974601 GRCh37: 4:10082995-10082995
GRCh38: 4:10081371-10081371
3 WDR1 NM_017491.5(WDR1):c.361G>A (p.Gly121Arg) SNV Pathogenic 974602 GRCh37: 4:10100632-10100632
GRCh38: 4:10099008-10099008
4 WDR1 NM_017491.5(WDR1):c.856C>G (p.Leu286Val) SNV Pathogenic 974603 GRCh37: 4:10089426-10089426
GRCh38: 4:10087802-10087802
5 WDR1 NM_017491.5(WDR1):c.435C>G (p.His145Gln) SNV Pathogenic 974604 GRCh37: 4:10099458-10099458
GRCh38: 4:10097834-10097834
6 WDR1 NM_017491.5(WDR1):c.1715A>T (p.Asp572Val) SNV Pathogenic 974605 GRCh37: 4:10077108-10077108
GRCh38: 4:10075484-10075484
7 WDR1 NM_017491.5(WDR1):c.877C>T (p.Leu293Phe) SNV Pathogenic 974606 GRCh37: 4:10089405-10089405
GRCh38: 4:10087781-10087781
8 WDR1 NM_017491.5(WDR1):c.16AAG[1] (p.Lys7del) Deletion Pathogenic 974600 GRCh37: 4:10117854-10117856
GRCh38: 4:10116230-10116232

Expression for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

Search GEO for disease gene expression data for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome.

Pathways for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

GO Terms for Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome

Sources for Periodic Fever, Immunodeficiency, and Thrombocytopenia 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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