Fever, and Neutropenia

Diseases related with Fever and Neutropenia

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

Top matches:

Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) is a relatively mild form of neutropenia diagnosed in adults but predisposing to leukemia in a subset of patients (Papadaki et al., 2002).

ADULT IDIOPATHIC NEUTROPENIA Is also known as nonimmune chronic idiopathic neutropenia of adults|ni-cina

Related symptoms:

  • Fever
  • Recurrent infections
  • Leukemia
  • Neutropenia
  • Acute myeloid leukemia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADULT IDIOPATHIC NEUTROPENIA

X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.

X-LINKED SEVERE CONGENITAL NEUTROPENIA Is also known as xln

Related symptoms:

  • Fever
  • Immunodeficiency
  • Neutropenia
  • Abnormality of the skin
  • Eczema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED SEVERE CONGENITAL NEUTROPENIA

Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

Other less relevant matches:

Medium match FOLLICULAR LYMPHOMA

Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.

FOLLICULAR LYMPHOMA Is also known as oncogene b-cell leukemia 2

Related symptoms:

  • Neoplasm
  • Fever
  • Fatigue
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOLLICULAR LYMPHOMA

A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruni√Čras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

Medium match WHIM SYNDROME

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

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

Top 5 symptoms//phenotypes associated to Fever and Neutropenia

Symptoms // Phenotype % cases
Splenomegaly Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Lymphoma Recurrent infections Hepatosplenomegaly Leukemia Anemia Generalized hypotonia Respiratory tract infection

Rare Symptoms - Less than 30% cases

B-cell lymphoma Decreased lymphocyte apoptosis Hypertonia Pancytopenia Petechiae Follicular hyperplasia Skin rash Pneumonia Meningitis Hemolytic anemia Vasculitis Autoimmune hemolytic anemia Autoimmune thrombocytopenia Increased antibody level in blood Global developmental delay Recurrent bacterial infections Diarrhea Neoplasm Recurrent upper respiratory tract infections Hemophagocytosis Respiratory failure Hearing impairment Increased serum lactate Combined immunodeficiency Osteomyelitis Weak cry Generalized myoclonic seizures Cellulitis Aciduria IgG deficiency Apnea Periodontitis Verrucae Leukocytosis Recurrent urinary tract infections Sinusitis Bronchiectasis Abnormality of extrapyramidal motor function Otitis media Decreased antibody level in blood Carious teeth Arthritis Carcinoma Postnatal microcephaly Bradycardia Congestive heart failure Clonus 3-Methylglutaconic aciduria Poor suck Increased CSF lactate Myelokathexis Atelectasis Anhidrosis Ectodermal dysplasia Chronic diarrhea Hypocalcemia Respiratory insufficiency due to muscle weakness Encephalitis Gowers sign Episodic fever Dry skin Amelogenesis imperfecta Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Pyelonephritis Sepsis Difficulty walking Abnormality of female internal genitalia Dystonia Abnormality of female external genitalia Abnormality of bone marrow cell morphology Folliculitis Septic arthritis Tonsillitis Hypersegmentation of neutrophil nuclei Bone marrow hypercellularity Failure to thrive Encephalopathy Muscle weakness Abnormal facial shape Muscular hypotonia Spasticity Talipes equinovarus Myopathy Pectus excavatum Cerebral atrophy Increased B cell count Hypoplasia of the corpus callosum Nausea and vomiting Chronic lymphatic leukemia Night sweats Skin nodule Mediastinal lymphadenopathy Abnormality of the peritoneum Jaundice Hyperlipidemia Pleural effusion Premature graying of hair Hypopigmentation of hair Iris hypopigmentation Pulmonary infiltrates Partial albinism Gastrointestinal hemorrhage Glucose intolerance Lymphedema Eosinophilia Congenital neutropenia Acute myeloid leukemia Abnormality of the skin Eczema Myelodysplasia Anisocytosis Increased mean platelet volume Monocytopenia Insulin resistance Hypertriglyceridemia Increased serum ferritin Hypofibrinogenemia Fatigue Weight loss Nausea Nephrotic syndrome Urticaria Respiratory insufficiency Monocytosis Smooth muscle antibody positivity Recurrent respiratory infections Cardiac arrest Purpura Lymphoproliferative disorder Lymphocytosis Microcephaly Increased proportion of HLA DR+ T cells Growth delay Sensorineural hearing impairment Cataract Feeding difficulties Tremor Ventriculomegaly Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Antineutrophil antibody positivity Nephritis Antiphospholipid antibody positivity Elevated erythrocyte sedimentation rate Iron deficiency anemia Reticulocytosis Antinuclear antibody positivity Chronic noninfectious lymphadenopathy Increased IgA level Malar rash Platelet antibody positive Increased IgM level Autoimmune neutropenia Increased IgG level Reduced delayed hypersensitivity Coombs-positive hemolytic anemia Rheumatoid factor positive Protracted diarrhea


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