Fever, and Sepsis

Diseases related with Fever and Sepsis

In the following list you will find some of the most common rare diseases related to Fever and Sepsis that can help you solving undiagnosed cases.

Top matches:

Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.

FAMILIAL ISOLATED CONGENITAL ASPLENIA Is also known as splenic hypoplasia|asplenia, familial|hyposplenia, isolated congenital

Related symptoms:

  • Fever
  • Vomiting
  • Immunodeficiency
  • Abnormality of metabolism/homeostasis
  • Sepsis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL ISOLATED CONGENITAL ASPLENIA

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.

IMMUNODEFICIENCY WITH FACTOR I ANOMALY Is also known as complement component 3 inactivator deficiency|c3 inactivator deficiency

Related symptoms:

  • Fever
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR I ANOMALY

Other less relevant matches:

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

CHRONIC GRANULOMATOUS DISEASE Is also known as chronic septic granulomatosis|cgd

Related symptoms:

  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent respiratory infections
  • Malabsorption


SOURCES: ORPHANET MENDELIAN

More info about CHRONIC GRANULOMATOUS DISEASE

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS Is also known as interleukin-1 receptor antagonist deficiency|interleukin 1 receptor antagonist deficiency|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|dira|ompp

Related symptoms:

  • Pain
  • Feeding difficulties
  • Hepatomegaly
  • Fever
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Sepsis

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Meningitis Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Sepsis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Malabsorption Skin rash Diarrhea Decreased antibody level in blood Pyelonephritis Seizures Hepatomegaly Recurrent bacterial infections Sinusitis Splenomegaly Recurrent otitis media Pneumonia Recurrent skin infections Stomatitis Dehydration Weight loss Encephalitis Chronic diarrhea Neutropenia Global developmental delay Otitis media

Rare Symptoms - Less than 30% cases

Inflammatory abnormality of the skin Verrucae Agammaglobulinemia Osteomyelitis Recurrent urinary tract infections Scaling skin Vasculitis Pain Abnormal facial shape Recurrent sinusitis Thrombocytopenia Hematuria Hydronephrosis Eczema Gingivitis Dry skin Psoriasiform dermatitis Chronic otitis media Proteinuria Skin ulcer Anemia Thrombocytosis Hypoplasia of the thymus Agranulocytosis Abnormality of neutrophils Renal insufficiency Arthritis IgA deficiency Hepatocellular carcinoma IgG deficiency Dysgammaglobulinemia Recurrent lower respiratory tract infections Cholangitis IgM deficiency Chronic hepatitis Respiratory tract infection Increased IgM level Sclerosing cholangitis Cholangiocarcinoma Leukoencephalopathy Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Opportunistic infection IgE deficiency Impaired memory B cell generation Hypertelorism High palate Decreased T cell activation Choreoathetosis Involuntary movements Progressive encephalopathy Asplenia Ectodermal dysplasia Polysplenia Hypocalcemia Respiratory insufficiency due to muscle weakness Abnormality of abdomen morphology Gowers sign Anhidrosis Episodic fever Amelogenesis imperfecta Heat intolerance Clumsiness Recurrent aphthous stomatitis Protracted diarrhea Cognitive impairment Dysarthria Carcinoma Abnormality of the liver Autoimmunity Hemolytic anemia Neurodegeneration Fatigue Epicanthus Recurrent pneumonia Cough Hypothermia Intracranial hemorrhage Erythroderma Emphysema Malnutrition Ectopic kidney Abnormality of the musculature Congenital ichthyosiform erythroderma Irregular hyperpigmentation Atopic dermatitis Severe postnatal growth retardation Villous atrophy Urticaria Allergy Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Allergic rhinitis Increased IgE level Angioedema Immunologic hypersensitivity Hypernatremia Hypernatremic dehydration Brittle scalp hair Brittle hair Abnormal intestine morphology Hepatitis Intellectual disability Bronchiectasis Heterotaxy Conjunctivitis Cellulitis Bronchitis External ear malformation Abnormality of metabolism/homeostasis B lymphocytopenia Crohn's disease Recurrent enteroviral infections Short stature Acanthosis nigricans Growth delay Alopecia Pruritus Ichthyosis Asthma Fine hair Sparse scalp hair Sparse and thin eyebrow Abnormality of the hair Aminoaciduria Sparse eyelashes Lymphadenopathy Talipes equinovarus Difficulty walking Severe combined immunodeficiency Cutaneous photosensitivity Pyloric stenosis Tracheoesophageal fistula Hypermelanotic macule Macule Chronic obstructive pulmonary disease Inflammatory abnormality of the eye Mediastinal lymphadenopathy Liver abscess Cryptorchidism Impaired T cell function Hypertension Dilatation Constipation Combined immunodeficiency Stage 5 chronic kidney disease Nephropathy Vesicoureteral reflux Urinary incontinence Polydipsia Clubbing Cellular immunodeficiency Recurrent Haemophilus influenzae infections Polyuria Granulocytopenia Lack of T cell function Congenital agranulocytosis Aplasia/Hypoplasia of the thymus Purpura Aplasia of the thymus Chronic kidney disease Systemic lupus erythematosus Glomerulonephritis Nephritis Abnormality of the thymus Hemolytic-uremic syndrome Glomerular deposits Mesangial hypercellularity Septic arthritis Decreased serum complement C3 Recurrent streptococcus pneumoniae infections Tonsillitis Recurrent meningococcal disease Recurrent meningitis Decreased serum complement factor B Decreased serum complement factor H Decreased serum complement factor I Keratitis Hydroureter Encephalopathy Low-grade fever Leukocytosis Leukopenia Interstitial pulmonary abnormality Vertebral fusion Fragile skin Joint swelling Pustule Lymphopenia Fused cervical vertebrae Fetal distress Cerebral vasculitis Vomiting Periostitis Chronic recurrent multifocal osteomyelitis Onychomadesis Generalized hypotonia Muscle weakness Muscular hypotonia Spasticity Myopathy Hearing impairment Pectus excavatum Hyperostosis Abnormality of mitochondrial metabolism Acute kidney injury Urethral obstruction Keratoconjunctivitis sicca Dysuria Enuresis Wolff-Parkinson-White syndrome Neurogenic bladder Urinary retention Facial grimacing Urethral stenosis Mild proteinuria Enuresis nocturna Urethral valve Osteolysis Encopresis Abnormal facial expression Nocturnal lagophthalmos Feeding difficulties Respiratory insufficiency Respiratory distress Hyperkeratosis Osteopenia Arthralgia Epidermal acanthosis IgE-mediated food allergy


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